Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
ABCA10_chr17_69143007_69233824	69146209	TATATATA others(38): Show TATATATATACGGAATATATATATACGGAATATATATATATACGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG02027.hp2 others(6): Show HG00323.hp2 HG01106.hp1 HG02027.hp2 HG03688.hp2 HG03831.hp1 HG04184.hp2 NA18953.hp1 NA18960.hp1 NA19079.hp2	a0002 a0003 a0026 a0002 a0003 a0026	a0002c0002 a0003c0003 a0026c0019 a0002c0002 a0003c0003 a0026c0019	a0002c0002t0001 a0003c0003t0001 a0003c0003t0005 others(1): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0005 a0026c0019t0001	a0002c0002t0001g0008 a0002c0002t0001g0043 a0002c0002t0001g0075 others(6): Show a0002c0002t0001g0008 a0002c0002t0001g0043 a0002c0002t0001g0075 a0002c0002t0001g0202 a0002c0002t0001g0279 a0003c0003t0001g0087 a0003c0003t0001g0093 a0003c0003t0005g0324 a0026c0019t0001g0204	9	348	0.0259	-45	c.25 others(56): Show c.2573_*2617delTCCGTATATATATATATTCCGTATATATATATTC CGTATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1797		chr17	TogoVar
ABCA1_chr9_104776006_104933155	104862661	GGCCGGGC others(38): Show GGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGCCCCC	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0007 a0007	a0007c0090 a0007c0090	a0007c0090t0007 a0007c0090t0007	a0007c0090t0007g0046 a0007c0090t0007g0046	1	318	0.0031	-45	c.422 others(60): Show c.422-906_422-862delGGGGGCCGGCCCGGCCCGGCCCGGCCCGGC CCGGCCCGGCCCGGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA2_chr9_137002234_137033237	137022120	AGTGGGGG others(38): Show AGTGGGGGCGTGGCTCAGATGGTGGGGGCGTGGCTCCGATGTAGGT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0186 a0001c0056t0001g0186	1	320	0.0031	-45	c.568 others(60): Show c.568-164_568-120delACCTACATCGGAGCCACGCCCCCACCATCT GAGCCACGCCCCCAC	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	6/48			chr9	TogoVar
ABCA6_chr17_69073702_69146895	69146209	TATATATA others(38): Show TATATATATACGGAATATATATATACGGAATATATATATATACGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01106.hp2 HG03688.hp2 others(2): Show HG00323.hp1 HG01106.hp2 HG03688.hp2 HG04184.hp2 NA19075.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0075 a0001c0001t0001g0181 a0001c0001t0001g0182 others(2): Show a0001c0001t0001g0075 a0001c0001t0001g0181 a0001c0001t0001g0182 a0002c0002t0002g0201 a0002c0002t0002g0229	5	326	0.0153	-45	c.-45 others(56): Show c.-4555_-4511delTCCGTATATATATATATTCCGTATATATATATTC CGTATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		4315		chr17	TogoVar
ABR_chr17_998519_1184981	1036451	ACAAGAAG others(38): Show ACAAGAAGGTGCTGGAGGAGAGCAGGGCGGACCCGAGGCTGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19043.hp1 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0008 a0001c0006t0047 a0001c0002t0008 a0001c0006t0047	a0001c0002t0008g0037 a0001c0006t0047g0227 a0001c0002t0008g0037 a0001c0006t0047g0227	2	337	0.0059	-45	c.179 others(66): Show c.1791+13554_1791+13598delCCCCCCAGCCTCGGGTCCGCCCTG CTCTCCTCCAGCACCTTCTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1131758	TCTTTGCA others(38): Show TCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01361.hp2 HG01496.hp1 others(5): Show HG01169.hp1 HG01361.hp2 HG01496.hp1 HG02683.hp2 HG02717.hp2 HG02976.hp1 HG03225.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0003t0054	a0001c0001t0005g0282 a0001c0001t0006g0118 a0001c0001t0008g0024 others(5): Show a0001c0001t0005g0282 a0001c0001t0006g0118 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0010g0300 a0001c0001t0011g0167 a0001c0003t0054g0231	8	337	0.0237	-45	c.62- others(60): Show c.62-6436_62-6392delGGGGGGAGCTGTGCGCGTGGCAGGCACTGC ATTTGGTGTGCAAAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAA2_chr18_49777164_49818533	49800175	TGGGGGGT others(38): Show TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp2 NA18906.hp1 HG02055.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0036 a0001c0001t0013g0192 a0001c0001t0013g0036 a0001c0001t0013g0192	3	434	0.0069	-45	c.183 others(62): Show c.183+2467_183+2511delCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCC	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACACA_chr17_37079992_37411836	37390259	ATAATTAT others(38): Show ATAATTATATATAATATATTATATATAATTATATATTATACATAAT	A A	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	299	0.0033	-45	c.38+ others(62): Show c.38+15958_38+16002delATTATGTATAATATATAATTATATATAA TATATTATATATAATTA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACADS_chr12_120720826_120745008	120733535	CTGCCTGC others(38): Show CTGCCTGCTGAAATGGTGCCTGCTGAAATGGTGCCTGCTGAAATGG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00609.hp1 others(70): Show HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01109.hp1 HG01243.hp1 HG01361.hp1 HG01361.hp2 HG01975.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18943.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA19000.hp2 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0007c0020 a0008c0018	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0008 a0001c0003t0003 a0001c0003t0015 a0001c0005t0001 a0001c0006t0005 a0001c0006t0006 a0001c0006t0007 a0007c0020t0005 a0008c0018t0001	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0033 others(45): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0104 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0004g0016 a0001c0001t0004g0125 a0001c0001t0004g0129 a0001c0002t0001g0006 a0001c0002t0001g0017 a0001c0002t0001g0137 a0001c0002t0001g0144 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0179 a0001c0002t0008g0006 a0001c0003t0003g0021 a0001c0003t0003g0069 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0091 a0001c0003t0003g0146 a0001c0003t0015g0021 a0001c0005t0001g0017 a0001c0005t0001g0145 a0001c0006t0005g0176 a0001c0006t0006g0230 a0001c0006t0006g0231 a0001c0006t0007g0051 a0001c0006t0007g0216 a0007c0020t0005g0188 a0008c0018t0001g0167	73	426	0.1714	-45	c.211 others(62): Show c.211-3415_211-3371delGCTGAAATGGTGCCTGCTGAAATGGTGC CTGCTGAAATGGTGCCT	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACMSD_chr2_134833616_134907034	134834851	GGGAAGGA others(38): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01256.hp2 others(28): Show HG00639.hp2 HG01243.hp1 HG01256.hp2 HG01952.hp1 HG02040.hp2 HG02071.hp2 HG02257.hp1 HG02451.hp1 HG02647.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG06807.hp1 NA18951.hp2 NA18956.hp2 NA18991.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19030.hp1 NA19043.hp1 NA19066.hp2 NA19081.hp2 NA19087.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0006 a0001c0001 a0002c0002 a0007c0006	a0001c0001t0001 a0002c0002t0001 a0007c0006t0001 a0001c0001t0001 a0002c0002t0001 a0007c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0025 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0134 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0204 a0001c0001t0001g0227 a0001c0001t0001g0236 a0001c0001t0001g0247 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0309 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0340 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0360 a0002c0002t0001g0013 a0002c0002t0001g0185 a0007c0006t0001g0244	31	382	0.0812	-45	c.-38 others(56): Show c.-3831_-3787delGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834853	GAAGGAAG others(38): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG02895.hp2 others(2): Show HG02451.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0349 a0001c0001t0001g0350 others(2): Show a0001c0001t0001g0105 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0358	5	382	0.0131	-45	c.-38 others(56): Show c.-3829_-3785delAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3762		chr2	TogoVar
ACP7_chr19_39079368_39116493	39101985	TGGTGCTT others(38): Show TGGTGCTTGCTTGTAATTTTAGCTATTCAAAAAGATGAGTCAGGAG	T T	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0166 a0001c0001t0011g0166	1	402	0.0025	-45	c.111 others(62): Show c.1113+450_1113+494delGTGCTTGCTTGTAATTTTAGCTATTCAA AAAGATGAGTCAGGAGG	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTL6A_chr3_179557926_179593407	179569547	ATGAATAT others(38): Show ATGAATATAATTGGGCTGAGTGCAGTGGCTCATGCCTGCAGCACTT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	380	0.0026	-45	c.26- others(58): Show c.26-274_26-230delAATATAATTGGGCTGAGTGCAGTGGCTCATGC CTGCAGCACTTTG	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACTN4_chr19_38642649_38736589	38735823	GGGGCGGG others(38): Show GGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGTGGTTCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0121 a0001c0017t0002g0121	1	314	0.0032	-45	c.63 others(56): Show c.6392_*6436delGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGC GGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4235		chr19	TogoVar
ACVR1_chr2_157731446_157881330	157826697	GAAGGAAA others(38): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp2 HG02970.hp1 others(5): Show HG02622.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0001 a0001c0002t0004 a0001c0002t0018 others(3): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0018 a0001c0003t0001 a0001c0003t0005 a0001c0006t0006	a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0004g0169 others(5): Show a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0004g0169 a0001c0002t0018g0148 a0001c0003t0001g0104 a0001c0003t0001g0136 a0001c0003t0005g0007 a0001c0006t0006g0022	8	174	0.0460	-45	c.-18 others(64): Show c.-182-8183_-182-8139delTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ADAM8_chr10_133257423_133281868	133261974	CGGGGCCG others(38): Show CGGGGCCGTTGCCAGGAGACGAGACGGAATGGGCGGGGCGCGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00738.hp1 others(40): Show HG00099.hp2 HG00280.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01891.hp2 HG02109.hp2 HG02135.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03710.hp2 NA18522.hp2 NA18944.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0010 a0021 a0026	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0004c0005 a0004c0026 a0006c0008 a0010c0014 a0021c0024 a0026c0027	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0007t0002 a0004c0005t0002 a0004c0026t0002 a0006c0008t0003 a0010c0014t0001 a0021c0024t0003 a0026c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0002t0002g0016 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0151 a0001c0002t0003g0034 a0001c0002t0003g0150 a0001c0007t0002g0036 a0001c0007t0002g0132 a0001c0007t0002g0152 a0004c0005t0002g0011 a0004c0005t0002g0037 a0004c0005t0002g0123 a0004c0005t0002g0124 a0004c0005t0002g0133 a0004c0005t0002g0134 a0004c0005t0002g0135 a0004c0026t0002g0136 a0006c0008t0003g0129 a0010c0014t0001g0087 a0021c0024t0003g0127 a0026c0027t0002g0142	43	386	0.1114	-45	c.11 others(56): Show c.1137_*1181delCGCCCGCGCCCCGCCCATTCCGTCTCGTCTCCTG GCAACGGCCCC	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding		448		chr10	TogoVar
ADAMTS2_chr5_179105853_179350461	179277884	CCCCTGCG others(38): Show CCCCTGCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03669.hp2 NA18998.hp2 HG00423.hp1 HG03669.hp2 NA18998.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0022 a0008c0010 a0001c0001 a0001c0022 a0008c0010	a0001c0001t0024 a0001c0022t0002 a0008c0010t0003 a0001c0001t0024 a0001c0022t0002 a0008c0010t0003	a0001c0001t0024g0055 a0001c0022t0002g0102 a0008c0010t0003g0241 a0001c0001t0024g0055 a0001c0022t0002g0102 a0008c0010t0003g0241	3	276	0.0109	-45	c.535 others(62): Show c.535-4865_535-4821delTCAGCCTTTGGTCTCGGGGGGGGGTCAG CCTTTGGTCTCGCAGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65319710	GGGAGGGA others(38): Show GGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG02559.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0163 a0001c0001t0002g0090 a0001c0001t0001g0163 a0001c0001t0002g0090	2	204	0.0098	-45	c.122 others(64): Show c.1223+9623_1223+9667delTTCCTTCCTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTTCCCTCC	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	9/24			chr5	TogoVar
ADAMTSL2_chr9_133529704_133580519	133562530	GGCTGGGC others(38): Show GGCTGGGCCCGGCTCGCACCGCCGTGGGCGGCGTGGCGGGCACCCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01496.hp2 others(27): Show HG00140.hp1 HG00738.hp1 HG01496.hp2 HG01884.hp2 HG01943.hp2 HG01975.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03492.hp2 HG06807.hp2 NA20805.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0006 a0001c0011 others(6): Show a0001c0001 a0001c0006 a0001c0011 a0001c0013 a0001c0016 a0001c0021 a0001c0023 a0003c0036 a0007c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0006t0001 a0001c0006t0005 a0001c0006t0008 a0001c0011t0001 a0001c0013t0001 a0001c0016t0001 a0001c0021t0016 a0001c0023t0001 a0003c0036t0001 a0007c0030t0013	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0052 others(27): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0002g0017 a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0079 a0001c0001t0004g0150 a0001c0001t0009g0001 a0001c0001t0014g0118 a0001c0006t0001g0111 a0001c0006t0005g0125 a0001c0006t0008g0074 a0001c0011t0001g0007 a0001c0011t0001g0029 a0001c0011t0001g0062 a0001c0013t0001g0015 a0001c0016t0001g0087 a0001c0021t0016g0129 a0001c0023t0001g0119 a0003c0036t0001g0113 a0007c0030t0013g0083	30	152	0.1974	-45	c.174 others(64): Show c.1747+1280_1747+1324delTGCTGGGCCCGGCTCGCACCGCCGTG GGCGGCGTGGCGGGCACCC	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL2_chr9_133529704_133580519	133562930	CGGCTTGG others(38): Show CGGCTTGGCCAGGCTCGCACCGCTGTGGGCGGCGTGGTGGGCACCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0111 a0001c0006t0001g0111	1	152	0.0066	-45	c.174 others(64): Show c.1747+1680_1747+1724delTGGCTTGGCCAGGCTCGCACCGCTGT GGGCGGCGTGGTGGGCACC	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL3_chr15_83649123_84044842	83823879	CCTTCTTC others(38): Show CCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0045 a0002c0045	a0002c0045t0001 a0002c0045t0001	a0002c0045t0001g0081 a0002c0045t0001g0081	1	274	0.0037	-45	c.600 others(62): Show c.600+3846_600+3890delCTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAP1_chr7_892900_959680	942727	GAGAGGAG others(38): Show GAGAGGAGGAGGAAGGGAGAGAGGAGGAGGAAGGGAGGAGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	14	0.0714	-45	c.83- others(60): Show c.83-7267_83-7223delTTCCTCCTCCTCCCTTCCTCCTCCTCTCTC CCTTCCTCCTCCTCT	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	1/10			chr7	TogoVar
ADARB1_chr21_45069580_45231560	45074012	CGGGGGCT others(38): Show CGGGGGCTCGGCGGGGGCTCGGCGGGGGCTCGGCGGGGGCTCGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02622.hp2 others(2): Show HG02258.hp1 HG02258.hp2 HG02622.hp2 HG02970.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0013 a0001c0002 a0001c0003 a0001c0013	a0001c0002t0008 a0001c0003t0096 a0001c0013t0093 a0001c0002t0008 a0001c0003t0096 a0001c0013t0093	a0001c0002t0008g0036 a0001c0002t0008g0037 a0001c0002t0008g0038 others(2): Show a0001c0002t0008g0036 a0001c0002t0008g0037 a0001c0002t0008g0038 a0001c0003t0096g0039 a0001c0013t0093g0034	5	350	0.0143	-45	c.-10 others(55): Show c.-1000_-956delGGGGGCTCGGCGGGGGCTCGGCGGGGGCTCGGCGG GGGCTCGGCG	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding		567		chr21	TogoVar
ADARB2_chr10_1172313_1742525	1238027	CTCCCGGT others(38): Show CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA19011.hp1 HG02897.hp1 NA19011.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0012 a0005c0015t0014 a0001c0001t0012 a0005c0015t0014	a0001c0001t0012g0024 a0005c0015t0014g0008 a0001c0001t0012g0024 a0005c0015t0014g0008	2	106	0.0189	-45	c.136 others(64): Show c.1361+4059_1361+4103delTGCAGGGAGTAAACACCGGGAGGCAG AGGGGAGTAAACACCGGGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238139	TCTCCCTC others(38): Show TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0021 a0002c0002t0027g0021	1	106	0.0094	-45	c.136 others(64): Show c.1361+3947_1361+3991delGGAGTAAACACCGGGAGGCAGAGGGG AGTAAACACCGGGAGGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238144	CTCCCGGT others(38): Show CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02258.hp2 HG02897.hp1 others(4): Show HG01934.hp1 HG02258.hp2 HG02897.hp1 HG02970.hp1 NA18984.hp1 NA18995.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0014 a0001c0001 a0002c0002 a0002c0014	a0001c0001t0012 a0001c0001t0054 a0002c0002t0004 others(4): Show a0001c0001t0012 a0001c0001t0054 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0046 a0002c0014t0008	a0001c0001t0012g0024 a0001c0001t0054g0083 a0002c0002t0004g0084 others(4): Show a0001c0001t0012g0024 a0001c0001t0054g0083 a0002c0002t0004g0084 a0002c0002t0005g0028 a0002c0002t0006g0018 a0002c0002t0046g0056 a0002c0014t0008g0060	7	106	0.0660	-45	c.136 others(64): Show c.1361+3942_1361+3986delTGCAGGGAGTAAACACCGGGAGGCAG AGGGGAGTAAACACCGGGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238328	TCTCCCTC others(38): Show TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	106	0.0094	-45	c.136 others(64): Show c.1361+3758_1361+3802delGGAGTAAACACCGGGAGGCAGAGGGG AGTAAACACCGGGAGGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238355	GCCTCCCG others(38): Show GCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19011.hp1 HG04184.hp2 NA19011.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0015 a0002c0002 a0005c0015	a0002c0002t0002 a0005c0015t0014 a0002c0002t0002 a0005c0015t0014	a0002c0002t0002g0075 a0005c0015t0014g0008 a0002c0002t0002g0075 a0005c0015t0014g0008	2	106	0.0189	-45	c.136 others(64): Show c.1361+3731_1361+3775delGAGAGGGGAGTAAACACCGGGATGCA GGGAGTAAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238667	CTCCCGGT others(38): Show CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0068 a0002c0002t0048g0068	1	106	0.0094	-45	c.136 others(64): Show c.1361+3419_1361+3463delTGCAGGGAGTAAACACCGGGAGGCAG GGGGGAGTAAACACCGGGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1439570	TATGGGGC others(38): Show TATGGGGCTCCTGAGTCTCTCCCAGGATGGAGGCAGGCCCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01081.hp2 others(36): Show HG00408.hp2 HG00639.hp1 HG01081.hp2 HG01433.hp1 HG01433.hp2 HG01934.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02886.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG04184.hp1 HG04184.hp2 NA18945.hp1 NA18945.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp2 NA18995.hp1 NA19011.hp2 NA19070.hp1 NA19086.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0010	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0014 a0009c0010 a0010c0009	a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 others(25): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0030 a0001c0001t0055 a0001c0001t0058 a0001c0003t0001 a0001c0007t0066 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0044 a0002c0002t0046 a0002c0002t0048 a0002c0002t0053 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0014t0008 a0009c0010t0006 a0010c0009t0024	a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0097 others(36): Show a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0009g0054 a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0011g0017 a0001c0001t0017g0030 a0001c0001t0030g0034 a0001c0001t0055g0089 a0001c0001t0058g0099 a0001c0003t0001g0052 a0001c0007t0066g0105 a0002c0002t0002g0050 a0002c0002t0002g0067 a0002c0002t0002g0075 a0002c0002t0004g0088 a0002c0002t0004g0096 a0002c0002t0005g0022 a0002c0002t0005g0028 a0002c0002t0007g0001 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0008g0047 a0002c0002t0041g0074 a0002c0002t0042g0061 a0002c0002t0043g0053 a0002c0002t0044g0049 a0002c0002t0046g0056 a0002c0002t0048g0068 a0002c0002t0053g0106 a0002c0002t0062g0093 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0014t0008g0060 a0009c0010t0006g0014 a0010c0009t0024g0016	39	106	0.3679	-45	c.101 others(64): Show c.101-60455_101-60411delCATGAAGGGCCTGCCTCCATCCTGGG AGAGACTCAGGAGCCCCAT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1699689	CAGGCGCT others(38): Show CAGGCGCTAGTCAATACACGCAAACCCACTTCCACCAGGGAGACCG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0045 a0001c0003t0045	a0001c0003t0045g0057 a0001c0003t0045g0057	1	106	0.0094	-45	c.100 others(64): Show c.100+37317_100+37361delCGGTCTCCCTGGTGGAAGTGGGTTTG CGTGTATTGACTAGCGCCT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADCK5_chr8_144369047_144398242	144398163	CCCCACCA others(38): Show CCCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03453.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0195 a0001c0001t0002g0196	2	346	0.0058	-45	c.50 others(56): Show c.5090_*5134delCCCACCACCGTCCCCACCCACCTACCTCCTTCCA GCAGGCGGATG	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding		4922		chr8	TogoVar
ADCY5_chr3_123277296_123454090	123312409	AAATCTGC others(38): Show AAATCTGCCATTTTAACCATTTTTAAGCGTACCATTCAGTGGCATT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	260	0.0039	-45	c.244 others(64): Show c.2442+1781_2442+1825delAATGCCACTGAATGGTACGCTTAAAA ATGGTTAAAATGGCAGATT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	12/20			chr3	TogoVar
ADGRB1_chr8_142444649_142550007	142500279	CCACCTCC others(38): Show CCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18964.hp1 HG00738.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0001 a0001c0001t0001 a0001c0026t0001	a0001c0001t0001g0151 a0001c0026t0001g0201 a0001c0001t0001g0151 a0001c0026t0001g0201	2	310	0.0065	-45	c.267 others(64): Show c.2675+9466_2675+9510delACCTCCCCACGCGCCGCTCCTCCACC TCCCCACGCGCCGCTCCTC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB3_chr6_68630282_69394506	69031037	CTCTCTTC others(38): Show CTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA20805.hp1 HG02735.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0049 a0001c0002t0001g0044 a0001c0001t0001g0049 a0001c0002t0001g0044	2	120	0.0167	-45	c.210 others(66): Show c.2107+12574_2107+12618delTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69333936	CAAAATAA others(38): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01192.hp2 others(25): Show HG00639.hp1 HG01069.hp2 HG01192.hp2 HG01517.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp2 HG03239.hp1 HG03654.hp1 NA18747.hp1 NA18966.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0002c0005 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0004c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0056 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0116 a0001c0002t0001g0009 a0001c0002t0001g0042 a0001c0002t0002g0063 a0001c0002t0004g0051 a0002c0004t0001g0011 a0002c0004t0001g0031 a0002c0004t0001g0098 a0002c0004t0002g0118 a0002c0005t0001g0048 a0004c0009t0001g0111	28	120	0.2333	-45	c.318 others(63): Show c.3188+968_3188+1012delTAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAA	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRD1_chr12_130948907_131146469	131029812	ACGGTGAC others(38): Show ACGGTGACATTCCCAGGCTCTGGGATTAGGTTGCGGACCCCTCGTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02647.hp2 HG03453.hp2 HG01934.hp2 HG02647.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0025 a0001c0001 a0001c0020 a0001c0025	a0001c0001t0028 a0001c0020t0002 a0001c0025t0021 a0001c0001t0028 a0001c0020t0002 a0001c0025t0021	a0001c0001t0028g0205 a0001c0020t0002g0180 a0001c0025t0021g0119 a0001c0001t0028g0205 a0001c0020t0002g0180 a0001c0025t0021g0119	3	242	0.0124	-45	c.147 others(66): Show c.1473+15505_1473+15549delCGGACCCCTCGTTCGGTGACATTC CCAGGCTCTGGGATTAGGTTG	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRG2_chrX_18984307_19127468	19065968	TCCCAAGT others(38): Show TCCCAAGTAGCTGGGATTATAGGCGTGCACCACCACGCCCGGCTAA	T T	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0182 a0001c0001t0013g0182	1	188	0.0053	-45	c.118 others(62): Show c.118+2704_118+2748delTTAGCCGGGCGTGGTGGTGCACGCCTAT AATCCCAGCTACTTGGG	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	3/28			chrX	TogoVar
AFAP1_chr4_7753714_7944861	7918169	GGCTGCCA others(38): Show GGCTGCCAGAAGAGACACTCGGCCCAGGTCACCAGGAAACAGGGCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01261.hp1 others(2): Show HG00099.hp1 HG00323.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1	a0001 a0001	a0001c0004 a0001c0036 a0001c0004 a0001c0036	a0001c0004t0006 a0001c0004t0062 a0001c0004t0066 others(2): Show a0001c0004t0006 a0001c0004t0062 a0001c0004t0066 a0001c0004t0068 a0001c0036t0060	a0001c0004t0006g0248 a0001c0004t0062g0241 a0001c0004t0066g0243 others(2): Show a0001c0004t0006g0248 a0001c0004t0062g0241 a0001c0004t0066g0243 a0001c0004t0068g0242 a0001c0036t0060g0136	5	318	0.0157	-45	c.-3+ others(62): Show c.-3+21442_-3+21486delAGCCCTGTTTCCTGGTGACCTGGGCCGA GTGTCTCTTCTGGCAGC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17			chr4	TogoVar
AGPAT1_chr6_32163212_32181084	32164420	GGTTGGAA others(38): Show GGTTGGAAAGATACTTCTAGGGAGCCCTTTGCTGGGGTGGGGATGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	445	0.0023	-45	c.48 others(56): Show c.4811_*4855delTCATCCCCACCCCAGCAAAGGGCTCCCTAGAAGT ATCTTTCCAAC	AGPAT1	ENSG00000204310.13	transcript	ENST00000375107.8	protein_coding		3791		chr6	TogoVar
AHCTF1_chr1_246834098_246936948	246897887	GAAGATCG others(38): Show GAAGATCGCTTAAGCCCAAGAGGTTGAGGCTACAGTGAGCCATGAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(105): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01496.hp1 HG01515.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19009.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA20129.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0009 a0010 a0017 a0020 a0022 a0024 a0026 a0027	a0001c0001 a0001c0004 a0001c0018 others(13): Show a0001c0001 a0001c0004 a0001c0018 a0001c0044 a0002c0002 a0003c0003 a0005c0006 a0009c0034 a0009c0035 a0010c0015 a0017c0040 a0020c0036 a0022c0031 a0024c0029 a0026c0043 a0027c0045	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 a0001c0004t0001 a0001c0004t0002 a0001c0004t0008 a0001c0004t0012 a0001c0004t0015 a0001c0004t0020 a0001c0018t0001 a0001c0044t0002 a0002c0002t0001 a0003c0003t0001 a0005c0006t0001 a0009c0034t0002 a0009c0035t0002 a0010c0015t0001 a0017c0040t0002 a0020c0036t0002 a0022c0031t0001 a0024c0029t0001 a0026c0043t0001 a0027c0045t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(105): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0230 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0001g0361 a0001c0001t0003g0320 a0001c0001t0003g0350 a0001c0001t0011g0144 a0001c0001t0011g0338 a0001c0001t0018g0318 a0001c0004t0001g0292 a0001c0004t0002g0059 a0001c0004t0002g0143 a0001c0004t0002g0145 a0001c0004t0002g0146 a0001c0004t0002g0148 a0001c0004t0002g0158 a0001c0004t0002g0161 a0001c0004t0002g0167 a0001c0004t0002g0253 a0001c0004t0002g0290 a0001c0004t0002g0291 a0001c0004t0002g0298 a0001c0004t0002g0327 a0001c0004t0002g0340 a0001c0004t0002g0356 a0001c0004t0002g0357 a0001c0004t0008g0294 a0001c0004t0008g0325 a0001c0004t0008g0326 a0001c0004t0012g0355 a0001c0004t0012g0359 a0001c0004t0015g0010 a0001c0004t0020g0147 a0001c0018t0001g0352 a0001c0044t0002g0149 a0002c0002t0001g0329 a0003c0003t0001g0015 a0003c0003t0001g0108 a0003c0003t0001g0132 a0003c0003t0001g0136 a0003c0003t0001g0301 a0003c0003t0001g0321 a0003c0003t0001g0341 a0005c0006t0001g0289 a0009c0034t0002g0164 a0009c0035t0002g0165 a0010c0015t0001g0159 a0010c0015t0001g0160 a0017c0040t0002g0358 a0020c0036t0002g0166 a0022c0031t0001g0137 a0024c0029t0001g0351 a0026c0043t0001g0170 a0027c0045t0001g0349	108	376	0.2872	-45	c.162 others(62): Show c.1623+276_1623+320delGTCATGGCTCACTGTAGCCTCAACCTCT TGGGCTTAAGCGATCTT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	12/35			chr1	TogoVar
AIF1L_chr9_131091531_131128144	131125428	AGGACCAT others(38): Show AGGACCATCCAGGGCGCAGGCGCAGGGACCTCACGGCCACGCCACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	424	0.0024	-45	c.51 others(56): Show c.5107_*5151delGGACCATCCAGGGCGCAGGCGCAGGGACCTCACG GCCACGCCACT	AIF1L	ENSG00000126878.13	transcript	ENST00000247291.8	protein_coding		2285		chr9	TogoVar
AK8_chr9_132720578_132883284	132880290	GCCCGTCC others(38): Show GCCCGTCCCCTGTGCCCTTCATCCACACTAATTTGGCTGCAGTGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	266	0.0038	-45	c.-20 others(56): Show c.-2080_-2036delGCCACTGCAGCCAAATTAGTGTGGATGAAGGGCA CAGGGGACGGG	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding		2007		chr9	TogoVar
AKAP17A_chrX_1586604_1607520	1587608	TTCCCCTC others(38): Show TTCCCCTCCCCTCCCTTCCCCTCCTCTACCTTCCCTTCCCCTCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03704.hp2 HG04184.hp2 others(3): Show HG03491.hp2 HG03704.hp2 HG04184.hp2 NA18994.hp1 NA19067.hp1 NA19068.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0005 a0008c0009 a0001c0001 a0001c0005 a0008c0009	a0001c0001t0001 a0001c0005t0001 a0001c0005t0006 others(2): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0006 a0001c0005t0013 a0008c0009t0001	a0001c0001t0001g0049 a0001c0001t0001g0093 a0001c0005t0001g0060 others(3): Show a0001c0001t0001g0049 a0001c0001t0001g0093 a0001c0005t0001g0060 a0001c0005t0006g0062 a0001c0005t0013g0058 a0008c0009t0001g0059	6	151	0.0397	-45	c.-41 others(56): Show c.-4180_-4136delTCCCCTCCCCTCCCTTCCCCTCCTCTACCTTCCC TTCCCCTCCCC	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3995		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1589089	CCTCCCTT others(38): Show CCTCCCTTCCCCTCCCCTCCCCTCCTTTCCCTTCCCCTCCCCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0124 a0001c0012t0003g0124	1	151	0.0066	-45	c.-26 others(56): Show c.-2699_-2655delCTCCCTTCCCCTCCCCTCCCCTCCTTTCCCTTCC CCTCCCCTCCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		2514		chrX	TogoVar
AKAP4_chrX_50185777_50206007	50199531	GTCTGGAA others(38): Show GTCTGGAACTAAAAGTAAAAAGGAAATGACAAAAGCCAGTGACTGA	G G	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0084 a0001c0001t0007g0084	1	287	0.0035	-45	c.28- others(58): Show c.28-824_28-780delTCAGTCACTGGCTTTTGTCATTTCCTTTTTAC TTTTAGTTCCAGA	AKAP4	ENSG00000147081.15	transcript	ENST00000358526.7	protein_coding	1/5			chrX	TogoVar
AKNA_chr9_114329156_114392982	114376179	TCCACCCC others(38): Show TCCACCCCAGGCCTCCCCACCCCACCAGGCTCTACCCCAGGGCTCC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02451.hp1 NA18747.hp2 others(1): Show HG01192.hp1 HG02451.hp1 NA18747.hp2 NA18956.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0045 a0002c0043 a0003c0044 others(1): Show a0001c0045 a0002c0043 a0003c0044 a0007c0042	a0001c0045t0039 a0002c0043t0001 a0003c0044t0042 others(1): Show a0001c0045t0039 a0002c0043t0001 a0003c0044t0042 a0007c0042t0001	a0001c0045t0039g0186 a0002c0043t0001g0187 a0003c0044t0042g0189 others(1): Show a0001c0045t0039g0186 a0002c0043t0001g0187 a0003c0044t0042g0189 a0007c0042t0001g0188	4	388	0.0103	-45	c.134 others(62): Show c.1341+242_1341+286delGGAGCCCTGGGGTAGAGCCTGGTGGGGT GGGGAGGCCTGGGGTGG	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	3/21			chr9	TogoVar
AKR1C8_chr10_5148920_5190150	5183219	AATATTCT others(38): Show AATATTCTAGTTCTGAACAATTATCCTACAAATCCTACCAGGTCAT	A A	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0089 a0003c0004t0002g0089	1	408	0.0025	-45	c.93+ others(60): Show c.93+1748_93+1792delATGACCTGGTAGGATTTGTAGGATAATTGT TCAGAACTAGAATAT	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	1/8			chr10	TogoVar
ALOX5_chr10_45369216_45451117	45391996	GTCAGCCC others(38): Show GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGGAGGGGT	G G	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0299 a0001c0002t0002g0299	1	345	0.0029	-45	c.350 others(62): Show c.350-3826_350-3782delGGAGGGGAGGGGTTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCG	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALPK2_chr18_58476247_58634091	58566982	CGCATATT others(38): Show CGCATATTAAAAATGCAGGTTCAGGCCTGCATTTATTTCTCAGACA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03041.hp1 others(2): Show HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03486.hp2 HG03540.hp1	a0002 a0006 a0032 others(1): Show a0002 a0006 a0032 a0033	a0002c0002 a0006c0039 a0032c0078 others(1): Show a0002c0002 a0006c0039 a0032c0078 a0033c0038	a0002c0002t0004 a0006c0039t0008 a0032c0078t0008 others(1): Show a0002c0002t0004 a0006c0039t0008 a0032c0078t0008 a0033c0038t0004	a0002c0002t0004g0280 a0006c0039t0008g0283 a0032c0078t0008g0284 others(2): Show a0002c0002t0004g0280 a0006c0039t0008g0283 a0032c0078t0008g0284 a0033c0038t0004g0281 a0033c0038t0004g0282	5	320	0.0156	-45	c.196 others(66): Show c.1962+11787_1962+11831delTGTCTGAGAAATAAATGCAGGCCT GAACCTGCATTTTTAATATGC	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar

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Search Results (Total: 1160 hits)