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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AADACL4_chr1_12639085_12672076	12658671	TCCACCCC others(24): Show TCCACCCCCGGCGCTGATGCTGCCCTGCCCTG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03139.hp2 HG03486.hp2 HG01106.hp1 HG03139.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0036 a0001c0001t0003g0007 a0001c0001t0003g0036	3	310	0.0097	-31	c.386 others(48): Show c.386-3117_386-3087delACCCCCGGCGCTGATGCTGCCCTGCCCT GCC		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
AARSD1_chr17_42945526_42969454	42962242	GTAAGCCG others(24): Show GTAAGCCGAGATCACGCCGCTGCGCTCCAGCC	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	324	0.0031	-31	c.172 others(46): Show c.172-922_172-892delGGCTGGAGCGCAGCGGCGTGATCTCGGCTT A		AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding	2/11						chr17	TogoVar
ABAT_chr16_8669617_8789570	8735421	TTTAAAGT others(24): Show TTTAAAGTCTTTGTGAAGATGGGATCTTGCTA	T T	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0165 a0001c0003t0003g0165	1	362	0.0028	-31	c.-41 others(46): Show c.-41-276_-41-246delTAAAGTCTTTGTGAAGATGGGATCTTGCTA T		ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69211305	CATATATA others(24): Show CATATATATGATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0006 a0003c0028t0006	a0003c0028t0006g0248 a0003c0028t0006g0248	1	348	0.0029	-31	c.100 others(50): Show c.1006+3368_1006+3398delATATATATATATATATATATATCATA TATAT		ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38						chr17	TogoVar
ABCA13_chr7_48166458_48652497	48443861	TCCTCTTT others(24): Show TCCTCTTTCCTTCCTGTTACAGGAGGAAACAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02109.hp2 HG03139.hp2 others(1): Show HG00558.hp2 HG02109.hp2 HG03139.hp2 HG03453.hp2	a0001 a0006 a0047 others(1): Show a0001 a0006 a0047 a0087	a0001c0001 a0006c0007 a0047c0040 others(1): Show a0001c0001 a0006c0007 a0047c0040 a0087c0039	a0001c0001t0001 a0006c0007t0003 a0047c0040t0001 others(1): Show a0001c0001t0001 a0006c0007t0003 a0047c0040t0001 a0087c0039t0001	a0001c0001t0001g0004 a0006c0007t0003g0121 a0047c0040t0001g0009 others(1): Show a0001c0001t0001g0004 a0006c0007t0003g0121 a0047c0040t0001g0009 a0087c0039t0001g0003	4	178	0.0225	-31	c.125 others(54): Show c.12566-11052_12566-11022delCCCTCTTTCCTTCCTGTTACAG GAGGAAACA		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	42/61					INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA9_chr17_68969488_69065927	69023836	ATTCTTTC others(24): Show ATTCTTTCAGCTCTTCTTCGATAGTCTGCCAC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp1 NA19043.hp1 others(1): Show HG03041.hp2 HG03098.hp1 NA19043.hp1 NA19240.hp1	a0008 a0009 a0008 a0009	a0008c0013 a0008c0020 a0009c0011 a0008c0013 a0008c0020 a0009c0011	a0008c0013t0003 a0008c0020t0003 a0009c0011t0003 a0008c0013t0003 a0008c0020t0003 a0009c0011t0003	a0008c0013t0003g0056 a0008c0020t0003g0054 a0009c0011t0003g0046 others(1): Show a0008c0013t0003g0056 a0008c0020t0003g0054 a0009c0011t0003g0046 a0009c0011t0003g0047	4	312	0.0128	-31	c.228 others(48): Show c.2281+347_2281+377delGTGGCAGACTATCGAAGAAGAGCTGAAA GAA		ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	17/38						chr17	TogoVar
ABCB5_chr7_20610667_20762008	20681084	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0024 a0024	a0024c0073 a0024c0073	a0024c0073t0017 a0024c0073t0017	a0024c0073t0017g0055 a0024c0073t0017g0055	1	360	0.0028	-31	c.170 others(48): Show c.1708-420_1708-390delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT		ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27						chr7	TogoVar
ABCB9_chr12_122923992_122971463	122942421	CTACTGAA others(24): Show CTACTGAAAATACAATTTTGTACTAAATTTTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02055.hp2 others(17): Show HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0004g0010 others(13): Show a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0005g0008 a0001c0001t0005g0022 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0007g0021	20	272	0.0735	-31	c.138 others(50): Show c.1381-1457_1381-1427delCAAAATTTAGTACAAAATTGTATTTT CAGTA		ABCB9	ENSG00000150967.19	transcript	ENST00000280560.13	protein_coding	7/11						chr12	TogoVar
ABCC3_chr17_50629881_50697253	50673980	CTCTCTCT others(24): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp2 HG03540.hp2 HG03139.hp2 HG03471.hp2 HG03540.hp2	a0001 a0005 a0023 a0001 a0005 a0023	a0001c0009 a0005c0008 a0023c0020 a0001c0009 a0005c0008 a0023c0020	a0001c0009t0001 a0005c0008t0001 a0023c0020t0001 a0001c0009t0001 a0005c0008t0001 a0023c0020t0001	a0001c0009t0001g0007 a0005c0008t0001g0313 a0023c0020t0001g0063 a0001c0009t0001g0007 a0005c0008t0001g0313 a0023c0020t0001g0063	3	342	0.0088	-31	c.259 others(48): Show c.2599+323_2599+353delTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCT		ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30						chr17	TogoVar
ABHD6_chr3_58232792_58299734	58298350	CCAACCAG others(24): Show CCAACCAGGGTGTGGACTTGGGGTTGCCTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	302	0.0033	-31	c.45 others(42): Show c.4586_*4616delCAACCAGGGTGTGGACTTGGGGTTGCCTGTG		ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding					3617		chr3	TogoVar
ABI1_chr10_26741596_26865958	26862910	AGTTTCCT others(24): Show AGTTTCCTAGGTTACTGATTGATATGGTTTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0358 a0002c0003t0004g0358	1	358	0.0028	-31	c.-20 others(42): Show c.-2078_-2048delCCAAACCATATCAATCAGTAACCTAGGAAAC		ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding					1953		chr10	TogoVar
ABLIM2_chr4_7960327_8163813	8026827	CTGTGTCT others(24): Show CTGTGTCTGCAGTGGCCTTTTACCTGAGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00642.hp1 others(81): Show HG00140.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18955.hp1 NA18962.hp1 NA18979.hp2 NA18983.hp1 NA18985.hp2 NA18998.hp1 NA19005.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA19066.hp1 NA19081.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0002c0005 a0003c0007 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0028 a0001c0001t0032 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0009 a0001c0008t0006 a0002c0005t0002 a0003c0007t0001 a0005c0006t0006	a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0086 others(81): Show a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0304 a0001c0001t0002g0024 a0001c0001t0002g0057 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0206 a0001c0001t0002g0213 a0001c0001t0002g0222 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0263 a0001c0001t0002g0284 a0001c0001t0003g0089 a0001c0001t0003g0170 a0001c0001t0003g0176 a0001c0001t0003g0255 a0001c0001t0003g0301 a0001c0001t0004g0128 a0001c0001t0004g0175 a0001c0001t0004g0224 a0001c0001t0005g0207 a0001c0001t0006g0102 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0006g0210 a0001c0001t0006g0272 a0001c0001t0007g0232 a0001c0001t0007g0236 a0001c0001t0007g0308 a0001c0001t0008g0116 a0001c0001t0012g0008 a0001c0001t0013g0093 a0001c0001t0013g0094 a0001c0001t0014g0291 a0001c0001t0015g0188 a0001c0001t0015g0189 a0001c0001t0017g0300 a0001c0001t0028g0062 a0001c0001t0032g0320 a0001c0002t0004g0064 a0001c0003t0001g0015 a0001c0003t0001g0150 a0001c0003t0001g0241 a0001c0003t0002g0081 a0001c0003t0002g0090 a0001c0003t0003g0030 a0001c0003t0006g0106 a0001c0003t0006g0142 a0001c0003t0006g0143 a0001c0003t0006g0155 a0001c0003t0006g0199 a0001c0003t0006g0209 a0001c0003t0009g0221 a0001c0008t0006g0289 a0002c0005t0002g0096 a0002c0005t0002g0097 a0003c0007t0001g0297 a0005c0006t0006g0205	84	322	0.2609	-31	c.126 others(48): Show c.1267+901_1267+931delCACACTCAGGTAAAAGGCCACTGCAGAC ACA		ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	12/20						chr4	TogoVar
ABRACL_chr6_139023745_139048302	139033853	ATAGTGAA others(24): Show ATAGTGAATCGTGGGTGCAAGGAGAATGGCTG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp1 HG02970.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	2	448	0.0045	-31	c.-6- others(44): Show c.-6-268_-6-238delGTGAATCGTGGGTGCAAGGAGAATGGCTGTA		ABRACL	ENSG00000146386.8	transcript	ENST00000367660.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
ABR_chr17_998519_1184981	1050868	AGCCCTCC others(24): Show AGCCCTCCCCACACTCTGCCCTTCCCACCTCG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG02717.hp2 others(3): Show HG01099.hp1 HG01192.hp2 HG02717.hp2 HG03453.hp2 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 others(3): Show a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0085 a0001c0004t0048	a0001c0001t0006g0118 a0001c0001t0008g0020 a0001c0002t0001g0110 others(3): Show a0001c0001t0006g0118 a0001c0001t0008g0020 a0001c0002t0001g0110 a0001c0002t0002g0100 a0001c0002t0085g0328 a0001c0004t0048g0198	6	337	0.0178	-31	c.156 others(48): Show c.1562-265_1562-235delCGAGGTGGGAAGGGCAGAGTGTGGGGAG GGC		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22						chr17	TogoVar
ABR_chr17_998519_1184981	1072513	AGAAGGGG others(24): Show AGAAGGGGACGAGGGACCTGCCGCCCGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0047 a0001c0006t0047	a0001c0006t0047g0227 a0001c0006t0047g0227	1	337	0.0030	-31	c.894 others(45): Show c.894+70_894+100delACACACGGGCGGCAGGTCCCTCGTCCCCTTC		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	8/22						chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289828	TGTCTCTG others(24): Show TGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA19004.hp1 NA18999.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0025 a0001c0001t0002g0011 a0001c0001t0002g0025	2	295	0.0068	-31	c.37 others(42): Show c.3705_*3735delTCGGGGGACGGACACGGGACGGGGCAGAGAC		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2562		chr1	TogoVar
ACAT2_chr6_159757045_159784112	159761820	ACCCCGGC others(24): Show ACCCCGGCCTCACTTCCGCCCCGCGCCCCGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03209.hp1 HG03710.hp1 HG01109.hp2 HG03209.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0152 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0152	3	404	0.0074	-31	c.-26 others(40): Show c.-267_-237delCCCCGGCCTCACTTCCGCCCCGCGCCCCGCG		ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding					224		chr6	TogoVar
ACER3_chr11_76855918_77031797	76950380	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	346	0.0029	-31	c.215 others(48): Show c.215-8596_215-8566delATATATATATATATATATATATATATAT AAT		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACOT11_chr1_54543228_54615329	54599170	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02895.hp1 HG02280.hp2 HG02895.hp1	a0002 a0002	a0002c0008 a0002c0015 a0002c0008 a0002c0015	a0002c0008t0003 a0002c0015t0006 a0002c0008t0003 a0002c0015t0006	a0002c0008t0003g0073 a0002c0015t0006g0185 a0002c0008t0003g0073 a0002c0015t0006g0185	2	388	0.0052	-31	c.765 others(45): Show c.765-124_765-94delAAAAAAAAAAATATATATATATATATATATA		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599172	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp1 HG03579.hp1 HG03098.hp2 HG03471.hp1 HG03579.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0014 a0002c0008t0003 a0002c0008t0014	a0002c0008t0003g0075 a0002c0008t0003g0077 a0002c0008t0014g0082 a0002c0008t0003g0075 a0002c0008t0003g0077 a0002c0008t0014g0082	3	388	0.0077	-31	c.765 others(45): Show c.765-122_765-92delAAAAAAAAATATATATATATATATATATATA		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACSM2A_chr16_20446521_20492669	20492638	GGGGCCTG others(24): Show GGGGCCTGGGAAGATCTCCCTTCCTCCACAGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01099.hp2 HG01109.hp2 others(85): Show HG00673.hp2 HG01099.hp2 HG01109.hp2 HG01258.hp1 HG01496.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03831.hp2 NA18522.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18961.hp2 NA18968.hp1 NA18974.hp2 NA18978.hp1 NA18992.hp1 NA18994.hp2 NA19000.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0017	a0001c0001 a0002c0002 a0003c0003 others(11): Show a0001c0001 a0002c0002 a0003c0003 a0003c0010 a0003c0015 a0003c0023 a0004c0004 a0005c0005 a0006c0006 a0007c0007 a0008c0008 a0009c0009 a0011c0011 a0017c0030	a0001c0001t0001 a0001c0001t0006 a0001c0001t0026 others(24): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0026 a0002c0002t0002 a0002c0002t0009 a0003c0003t0002 a0003c0003t0005 a0003c0003t0007 a0003c0003t0009 a0003c0010t0006 a0003c0015t0001 a0003c0023t0002 a0004c0004t0002 a0004c0004t0013 a0005c0005t0001 a0006c0006t0002 a0006c0006t0009 a0006c0006t0019 a0007c0007t0001 a0007c0007t0011 a0007c0007t0023 a0007c0007t0028 a0008c0008t0001 a0009c0009t0006 a0011c0011t0005 a0011c0011t0007 a0017c0030t0031	a0001c0001t0001g0066 a0001c0001t0001g0093 a0001c0001t0001g0128 others(79): Show a0001c0001t0001g0066 a0001c0001t0001g0093 a0001c0001t0001g0128 a0001c0001t0001g0185 a0001c0001t0006g0090 a0001c0001t0026g0061 a0002c0002t0002g0204 a0002c0002t0009g0259 a0003c0003t0002g0034 a0003c0003t0002g0037 a0003c0003t0002g0282 a0003c0003t0002g0283 a0003c0003t0002g0284 a0003c0003t0002g0288 a0003c0003t0002g0310 a0003c0003t0002g0314 a0003c0003t0002g0332 a0003c0003t0002g0339 a0003c0003t0002g0340 a0003c0003t0002g0342 a0003c0003t0002g0355 a0003c0003t0002g0357 a0003c0003t0002g0370 a0003c0003t0002g0375 a0003c0003t0005g0031 a0003c0003t0005g0176 a0003c0003t0007g0011 a0003c0003t0007g0249 a0003c0003t0009g0309 a0003c0010t0006g0163 a0003c0010t0006g0164 a0003c0015t0001g0150 a0003c0015t0001g0151 a0003c0023t0002g0341 a0004c0004t0002g0269 a0004c0004t0002g0281 a0004c0004t0002g0335 a0004c0004t0013g0278 a0005c0005t0001g0133 a0006c0006t0002g0036 a0006c0006t0002g0037 a0006c0006t0002g0270 a0006c0006t0002g0338 a0006c0006t0002g0347 a0006c0006t0002g0348 a0006c0006t0002g0349 a0006c0006t0002g0353 a0006c0006t0002g0354 a0006c0006t0002g0361 a0006c0006t0002g0362 a0006c0006t0002g0363 a0006c0006t0002g0364 a0006c0006t0002g0365 a0006c0006t0002g0366 a0006c0006t0002g0367 a0006c0006t0002g0368 a0006c0006t0002g0369 a0006c0006t0009g0346 a0006c0006t0009g0356 a0006c0006t0009g0374 a0006c0006t0019g0344 a0007c0007t0001g0005 a0007c0007t0001g0068 a0007c0007t0001g0083 a0007c0007t0001g0101 a0007c0007t0001g0102 a0007c0007t0001g0103 a0007c0007t0011g0005 a0007c0007t0011g0085 a0007c0007t0023g0104 a0007c0007t0028g0105 a0008c0008t0001g0015 a0009c0009t0006g0023 a0009c0009t0006g0154 a0009c0009t0006g0156 a0009c0009t0006g0165 a0009c0009t0006g0166 a0011c0011t0005g0274 a0011c0011t0005g0275 a0011c0011t0005g0276 a0011c0011t0007g0273 a0017c0030t0031g0122	88	436	0.2018	-31	c.59 others(42): Show c.5961_*5991delGGGCCTGGGAAGATCTCCCTTCCTCCACAGG		ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding					4970		chr16	TogoVar
ACTL8_chr1_17750333_17832063	17789825	TAGGACCT others(24): Show TAGGACCTTTGGGGTGTCATTTTTCTGGCTGG	T T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	366	0.0027	-31	c.-24 others(50): Show c.-24-33158_-24-33128delGGACCTTTGGGGTGTCATTTTTCTGG CTGGA		ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTR3B_chr7_152754752_152860378	152846124	CAGTCTGC others(24): Show CAGTCTGCAGTGAGCTCTAGTGCCCGGGCTGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	310	0.0032	-31	c.952 others(48): Show c.952-5964_952-5934delCAGTGAGCTCTAGTGCCCGGGCTGTAGT CTG		ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152846597	CAGTGAGC others(24): Show CAGTGAGCCCCAGCGCCCGGGCTGCAGTCTGT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01516.hp2 HG01515.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0099 a0001c0001t0002g0068 a0001c0001t0002g0099	2	310	0.0065	-31	c.952 others(48): Show c.952-5490_952-5460delCCCAGCGCCCGGGCTGCAGTCTGTAGTG AGC		ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTRT3_chr3_169761921_169774561	169770312	ATATATTT others(24): Show ATATATTTATATATTTAAGCAAGGATATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	418	0.0024	-31	c.-82 others(40): Show c.-823_-793delATTTATATCCTTGCTTAAATATATAAATATA		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					752		chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38492778	ACACACAC others(24): Show ACACACACACACACACACACACACACATACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0075 a0001c0003t0075	a0001c0003t0075g0153 a0001c0003t0075g0153	1	410	0.0024	-31	c.94 others(42): Show c.9448_*9478delACACACACACACACACACACACACATACACC		ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11				9448	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACYP2_chr2_53966113_54310300	54197916	TATTTTAT others(24): Show TATTTTATTTTATTTATGTATGTATTATATTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp1 HG01515.hp1 others(12): Show HG00438.hp2 HG01192.hp1 HG01515.hp1 HG02027.hp2 HG02895.hp2 HG02897.hp2 HG03540.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18964.hp2 NA18967.hp1 NA19002.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0002c0003t0002 a0002c0003t0005	a0001c0001t0001g0132 a0001c0001t0001g0213 a0001c0001t0001g0240 others(12): Show a0001c0001t0001g0132 a0001c0001t0001g0213 a0001c0001t0001g0240 a0001c0002t0002g0010 a0001c0002t0002g0026 a0001c0002t0002g0036 a0001c0002t0002g0058 a0001c0002t0002g0087 a0001c0002t0005g0035 a0001c0002t0008g0092 a0001c0002t0008g0094 a0002c0003t0002g0019 a0002c0003t0002g0032 a0002c0003t0002g0090 a0002c0003t0005g0015	15	272	0.0552	-31	c.404 others(50): Show c.404+59169_404+59199delATTTTATTTTATTTATGTATGTATTA TATTG		ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6						chr2	TogoVar
ADAM11_chr17_44753988_44786846	44785443	GCGAAACC others(24): Show GCGAAACCCCGTCTCTACTAAAAATACAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	336	0.0030	-31	c.56 others(42): Show c.5690_*5720delCGAAACCCCGTCTCTACTAAAAATACAAAAA		ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding					3598		chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100162448	TTATATAT others(24): Show TTATATATATGCACATATACACATTATATGTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp2 HG01361.hp2 others(27): Show HG00423.hp1 HG00735.hp2 HG01361.hp2 HG02055.hp1 HG02083.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02698.hp2 HG03017.hp1 HG03225.hp1 HG03239.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04228.hp2 NA18906.hp2 NA18983.hp1 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19088.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0002 a0001c0007 a0001c0014 others(16): Show a0001c0002 a0001c0007 a0001c0014 a0001c0018 a0001c0021 a0001c0041 a0002c0001 a0002c0004 a0002c0022 a0002c0055 a0002c0064 a0003c0006 a0003c0009 a0003c0015 a0004c0003 a0004c0030 a0004c0031 a0004c0054 a0006c0016	a0001c0002t0007 a0001c0007t0002 a0001c0007t0006 others(25): Show a0001c0002t0007 a0001c0007t0002 a0001c0007t0006 a0001c0007t0007 a0001c0007t0018 a0001c0014t0006 a0001c0018t0070 a0001c0021t0006 a0001c0041t0040 a0002c0001t0002 a0002c0001t0004 a0002c0001t0038 a0002c0004t0002 a0002c0004t0019 a0002c0022t0005 a0002c0055t0014 a0002c0064t0005 a0003c0006t0003 a0003c0006t0048 a0003c0009t0001 a0003c0009t0003 a0003c0015t0001 a0004c0003t0001 a0004c0003t0003 a0004c0030t0003 a0004c0031t0001 a0004c0054t0001 a0006c0016t0024	a0001c0002t0007g0180 a0001c0007t0002g0057 a0001c0007t0006g0062 others(27): Show a0001c0002t0007g0180 a0001c0007t0002g0057 a0001c0007t0006g0062 a0001c0007t0007g0066 a0001c0007t0018g0046 a0001c0014t0006g0122 a0001c0018t0070g0119 a0001c0021t0006g0171 a0001c0041t0040g0165 a0002c0001t0002g0174 a0002c0001t0004g0154 a0002c0001t0038g0051 a0002c0004t0002g0167 a0002c0004t0019g0048 a0002c0022t0005g0181 a0002c0055t0014g0002 a0002c0064t0005g0150 a0003c0006t0003g0014 a0003c0006t0048g0134 a0003c0009t0001g0199 a0003c0009t0003g0052 a0003c0015t0001g0159 a0004c0003t0001g0084 a0004c0003t0001g0136 a0004c0003t0001g0172 a0004c0003t0003g0012 a0004c0030t0003g0020 a0004c0031t0001g0070 a0004c0054t0001g0080 a0006c0016t0024g0200	30	228	0.1316	-31	c.118 others(50): Show c.1182-7159_1182-7129delCACATATAATGTGTATATGTGCATAT ATATA		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21						chr15	TogoVar
ADAMTS18_chr16_77277128_77440034	77290050	GATTTTTC others(24): Show GATTTTTCTTATTTTAAAAAGTTACTACATTA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0021 a0004c0029t0021	a0004c0029t0021g0307 a0004c0029t0021g0307	1	326	0.0031	-31	c.340 others(48): Show c.3403-670_3403-640delTAATGTAGTAACTTTTTAAAATAAGAAA AAT		ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	21/22						chr16	TogoVar
ADAMTS3_chr4_72275969_72574221	72399901	ATATATGC others(24): Show ATATATGCACACACGGTGTGTATATACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18998.hp1 HG02723.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0030 a0001c0001t0002 a0001c0001t0030	a0001c0001t0002g0052 a0001c0001t0030g0181 a0001c0001t0002g0052 a0001c0001t0030g0181	2	182	0.0110	-31	c.661 others(50): Show c.661+14883_661+14913delCACACGTATATACACACCGTGTGTGC ATATA		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21						chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72399934	ATATATGC others(24): Show ATATATGCACACACGGTGTGTATATACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01167.hp2 HG01255.hp2 others(23): Show HG00408.hp2 HG01167.hp2 HG01255.hp2 HG02004.hp2 HG02027.hp2 HG02080.hp1 HG02080.hp2 HG02165.hp1 HG02523.hp1 HG02615.hp1 HG03041.hp2 HG03540.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 NA18942.hp2 NA18951.hp1 NA18955.hp1 NA18995.hp1 NA18998.hp2 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19082.hp1 NA19083.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0011 a0002c0002 others(1): Show a0001c0001 a0001c0011 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 a0001c0011t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0007t0006	a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0105 others(23): Show a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0069 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0007g0082 a0001c0001t0026g0162 a0001c0011t0001g0081 a0002c0002t0001g0096 a0002c0002t0002g0055 a0002c0002t0002g0059 a0002c0002t0003g0058 a0003c0007t0006g0165	26	182	0.1429	-31	c.661 others(50): Show c.661+14850_661+14880delCACACGTATATACACACCGTGTGTGC ATATA		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21						chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72400054	ATATACGT others(24): Show ATATACGTGTGTATATATGCACACATGGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0088 a0007c0013t0001g0088	1	182	0.0055	-31	c.661 others(50): Show c.661+14730_661+14760delCACACCATGTGTGCATATATACACAC GTATA		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21						chr4	TogoVar
ADAMTS5_chr21_26912922_26972088	26951679	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02257.hp1 HG02451.hp1 others(5): Show HG01255.hp1 HG02257.hp1 HG02451.hp1 HG02895.hp1 HG02965.hp2 NA18522.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0042 a0001c0001t0112 others(1): Show a0001c0001t0034 a0001c0001t0042 a0001c0001t0112 a0001c0001t0126	a0001c0001t0034g0181 a0001c0001t0034g0182 a0001c0001t0034g0183 others(4): Show a0001c0001t0034g0181 a0001c0001t0034g0182 a0001c0001t0034g0183 a0001c0001t0042g0025 a0001c0001t0042g0287 a0001c0001t0112g0184 a0001c0001t0126g0240	8	398	0.0201	-31	c.123 others(50): Show c.1237+3029_1237+3059delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		ADAMTS5	ENSG00000154736.6	transcript	ENST00000284987.6	protein_coding	2/7						chr21	TogoVar
ADAMTSL3_chr15_83649123_84044842	83669364	TGGAACTC others(24): Show TGGAACTCCTGACCTTGTGATCTGCCCGCATC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02257.hp1 others(18): Show HG01884.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02622.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03486.hp2 HG03540.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0008 a0010 a0012 a0039	a0001c0001 a0001c0015 a0002c0002 others(6): Show a0001c0001 a0001c0015 a0002c0002 a0002c0008 a0007c0007 a0008c0010 a0010c0012 a0012c0034 a0039c0053	a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 a0002c0008t0001 a0007c0007t0001 a0007c0007t0013 a0008c0010t0001 a0010c0012t0007 a0012c0034t0001 a0039c0053t0001	a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 others(18): Show a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0015t0001g0065 a0001c0015t0001g0066 a0002c0002t0001g0072 a0002c0008t0001g0128 a0002c0008t0001g0129 a0007c0007t0001g0059 a0007c0007t0001g0060 a0007c0007t0001g0061 a0007c0007t0001g0062 a0007c0007t0001g0063 a0007c0007t0001g0068 a0007c0007t0013g0064 a0008c0010t0001g0074 a0010c0012t0007g0071 a0012c0034t0001g0055 a0039c0053t0001g0244	21	274	0.0766	-31	c.69+ others(48): Show c.69+13537_69+13567delAACTCCTGACCTTGTGATCTGCCCGCAT CGG		ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
ADARB2_chr10_1172313_1742525	1298720	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp1 HG04184.hp2 HG02257.hp1 HG03139.hp1 HG04184.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0009 a0001c0001 a0002c0002 a0010c0009	a0001c0001t0061 a0002c0002t0002 a0010c0009t0024 a0001c0001t0061 a0002c0002t0002 a0010c0009t0024	a0001c0001t0061g0087 a0002c0002t0002g0075 a0010c0009t0024g0016 a0001c0001t0061g0087 a0002c0002t0002g0075 a0010c0009t0024g0016	3	106	0.0283	-31	c.107 others(52): Show c.1078-27682_1078-27652delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADCY7_chr16_50261551_50323135	50287496	TGGGCAGC others(24): Show TGGGCAGCAGGGGGAGACGCCCATCTCTACAA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	338	0.0030	-31	c.-26 others(48): Show c.-268-415_-268-385delGGGCAGCAGGGGGAGACGCCCATCTCTA CAA		ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	1/25						chr16	TogoVar
ADCY9_chr16_3957653_4121442	3969584	ATATATAT others(24): Show ATATATATATATATATATATATATATGTATTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0309 a0001c0001t0116g0309	1	320	0.0031	-31	c.287 others(50): Show c.2871-2649_2871-2619delAAATACATATATATATATATATATAT ATATA		ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	10/10						chr16	TogoVar
ADD2_chr2_70651784_70773200	70675711	TGCCCCTG others(24): Show TGCCCCTGGGCCCCTTCCAAAAGGGAGGCCAC	T T	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	302	0.0033	-31	c.159 others(48): Show c.1594-917_1594-887delGTGGCCTCCCTTTTGGAAGGGGCCCAGG GGC		ADD2	ENSG00000075340.23	transcript	ENST00000264436.9	protein_coding	13/15						chr2	TogoVar
ADGRB3_chr6_68630282_69394506	68772873	ACAAACAA others(24): Show ACAAACAAACAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp1 HG02886.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0064 a0001c0001t0002g0065	2	120	0.0167	-31	c.757 others(52): Show c.757+133442_757+133472delCAAACAAACAAAAAAAAAAAAATA TATATAT		ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31						chr6	TogoVar
ADGRB3_chr6_68630282_69394506	68875119	TTTCCTTC others(24): Show TTTCCTTCTTTCTTTCTTCTTTCATTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0092 a0003c0008t0001g0092	1	120	0.0083	-31	c.758 others(50): Show c.758-55438_758-55408delTCCTTCTTTCTTTCTTCTTTCATTTC TTTCT		ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRD1_chr12_130948907_131146469	130997124	GCCGGGCG others(24): Show GCCGGGCGGGGGGCTGATCCCCCACCTCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02735.hp1 HG03688.hp1 others(2): Show HG00735.hp1 HG02735.hp1 HG03688.hp1 HG04199.hp2 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0004 a0001c0003t0006 others(1): Show a0001c0002t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0034	a0001c0002t0001g0010 a0001c0003t0004g0012 a0001c0003t0004g0198 others(2): Show a0001c0002t0001g0010 a0001c0003t0004g0012 a0001c0003t0004g0198 a0001c0003t0006g0092 a0001c0003t0034g0014	5	242	0.0207	-31	c.967 others(48): Show c.967-3254_967-3224delGCGGGGGGCTGATCCCCCACCTCCCTCC CGG		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	8/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131020130	CAGGGCAG others(24): Show CAGGGCAGGGGGTGCTCGAGGGAGATATTCCA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0147 a0001c0001t0016g0147	1	242	0.0041	-31	c.147 others(50): Show c.1473+5791_1473+5821delAGGGCAGGGGGTGCTCGAGGGAGATA TTCCA		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24						chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131129334	TGCCCTCC others(24): Show TGCCCTCCTGTCTGGGTGTGAGTGACAGGCTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG03225.hp1 others(1): Show HG02572.hp2 HG02717.hp2 HG03225.hp1 HG03579.hp2	a0001 a0007 a0001 a0007	a0001c0003 a0001c0007 a0007c0039 a0001c0003 a0001c0007 a0007c0039	a0001c0003t0018 a0001c0007t0018 a0007c0039t0001 a0001c0003t0018 a0001c0007t0018 a0007c0039t0001	a0001c0003t0018g0117 a0001c0003t0018g0232 a0001c0007t0018g0132 others(1): Show a0001c0003t0018g0117 a0001c0003t0018g0232 a0001c0007t0018g0132 a0007c0039t0001g0229	4	242	0.0165	-31	c.217 others(50): Show c.2176-2361_2176-2331delTGGCCCTCCTGTCTGGGTGTGAGTGA CAGGC		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	20/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRL1_chr19_14142743_14211169	14151435	AGCTCTGA others(24): Show AGCTCTGAGATGATCATCTTCTCAAAGGCCGC	A A	frameshift_variant frameshift_variant	HIGH	NA18955.hp2 NA18955.hp2	a0000 a0000	a0000c0013 a0000c0013	a0000c0013t0021 a0000c0013t0021	a0000c0013t0021g0174 a0000c0013t0021g0174	1	222	0.0045	-31	c.381 others(40): Show c.3817_3847delGCGGCCTTTGAGAAGATGATCATCTCAGAGC	p.Ala others(6): Show p.Ala1273fs	ADGRL1	ENSG00000072071.17	transcript	ENST00000361434.8	protein_coding	23/23	4127/7820	3817/4410	1273/1469			chr19	TogoVar
ADGRL3_chr4_61195326_62083335	61602073	GTTAATAA others(24): Show GTTAATAAATAAACGCTTGATCCATGCTAAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03017.hp1 HG03540.hp1 others(2): Show HG01109.hp1 HG03017.hp1 HG03540.hp1 HG03710.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0004c0010	a0001c0001t0001 a0001c0006t0006 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0006t0006 a0001c0007t0001 a0004c0010t0010	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0006t0006g0033 others(2): Show a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0006t0006g0033 a0001c0007t0001g0046 a0004c0010t0010g0020	5	58	0.0862	-31	c.473 others(50): Show c.473+14635_473+14665delTAATAAATAAACGCTTGATCCATGCT AAAAT		ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	5/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61764421	TGCAAGGT others(24): Show TGCAAGGTGCTCAGTGGGCAGGAGTGGGGGTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02109.hp1 others(11): Show HG01167.hp1 HG01169.hp2 HG02109.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0021 a0001c0003t0007 a0001c0003t0037 a0001c0003t0040 a0001c0003t0041 a0001c0004t0011 a0001c0005t0005 a0001c0005t0035 a0002c0015t0001	a0001c0001t0002g0013 a0001c0001t0003g0021 a0001c0001t0012g0042 others(11): Show a0001c0001t0002g0013 a0001c0001t0003g0021 a0001c0001t0012g0042 a0001c0002t0013g0035 a0001c0002t0014g0041 a0001c0002t0021g0005 a0001c0003t0007g0039 a0001c0003t0037g0045 a0001c0003t0040g0008 a0001c0003t0041g0038 a0001c0004t0011g0015 a0001c0005t0005g0031 a0001c0005t0035g0047 a0002c0015t0001g0044	14	58	0.2414	-31	c.139 others(52): Show c.1399+30885_1399+30915delCAGGAGTGGGGGTCGCAAGGTGCT CAGTGGG		ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	8/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
ADORA2B_chr17_15940130_15980746	15976091	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0156 a0002c0002t0005g0156	1	346	0.0029	-31	c.75 others(40): Show c.750_*780delAAAAAAAATATATATATATATATATATATAT		ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding					346		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976116	TATATATA others(24): Show TATATATATATATATATATATATATAAATAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0218 a0002c0002t0005g0218	1	346	0.0029	-31	c.77 others(40): Show c.775_*805delATATATATATATATATATATATATAAATAAA		ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding					371		chr17	TogoVar
ADPRHL1_chr13_113394611_113458488	113415729	TGACAGAG others(24): Show TGACAGAGTGAGACTCCATCTCAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0233 a0001c0001t0044g0233	1	262	0.0038	-31	c.106 others(50): Show c.1061+7066_1061+7096delTTTTTTTTTTGAGATGGAGTCTCACT CTGTC		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7						chr13	TogoVar

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