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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Results per page.

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
NAAA_chr4_75908660_75946013	75942304	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00673.hp2 others(23): Show HG00323.hp1 HG00544.hp2 HG00673.hp2 HG01256.hp2 HG01346.hp2 HG01975.hp1 HG01978.hp2 HG02027.hp2 HG03195.hp1 HG03688.hp2 HG03927.hp1 NA18939.hp1 NA18947.hp2 NA18949.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18966.hp1 NA18969.hp1 NA18978.hp2 NA18979.hp2 NA18994.hp1 NA19000.hp2 NA19056.hp2 NA19057.hp1 NA19070.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0002c0013 others(2): Show a0001c0001 a0002c0002 a0002c0013 a0003c0003 a0010c0017	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0007 a0002c0013t0001 a0003c0003t0001 a0010c0017t0001	a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0165 others(20): Show a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0002g0120 a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0084 a0002c0002t0001g0090 a0002c0002t0001g0106 a0002c0002t0001g0109 a0002c0002t0001g0112 a0002c0002t0001g0121 a0002c0002t0001g0133 a0002c0002t0001g0142 a0002c0002t0001g0153 a0002c0002t0001g0162 a0002c0002t0007g0117 a0002c0013t0001g0146 a0003c0003t0001g0298 a0010c0017t0001g0179	26	400	0.0650	-22	c.-13 others(33): Show c.-1377_-1356delTTTTTTTTTTTTTTTTTTTTTT	NAAA	ENSG00000138744.16	transcript	ENST00000286733.9	protein_coding		1292		chr4	TogoVar
NAALAD2_chr11_90129663_90197894	90154912	ATGTATAT others(15): Show ATGTATATATTATATACGTATAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00639.hp1 others(56): Show HG00323.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp2 HG01069.hp1 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01255.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02155.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18985.hp1 NA19009.hp2 NA19068.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0002 a0002c0003 a0002c0009 others(2): Show a0001c0002 a0002c0003 a0002c0009 a0006c0008 a0013c0013	a0001c0002t0004 a0001c0002t0005 a0001c0002t0016 others(8): Show a0001c0002t0004 a0001c0002t0005 a0001c0002t0016 a0002c0003t0001 a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0002c0003t0017 a0002c0009t0001 a0006c0008t0004 a0013c0013t0004	a0001c0002t0004g0319 a0001c0002t0004g0350 a0001c0002t0005g0012 others(53): Show a0001c0002t0004g0319 a0001c0002t0004g0350 a0001c0002t0005g0012 a0001c0002t0005g0332 a0001c0002t0005g0339 a0001c0002t0005g0340 a0001c0002t0005g0341 a0001c0002t0005g0342 a0001c0002t0005g0343 a0001c0002t0005g0344 a0001c0002t0005g0346 a0001c0002t0005g0347 a0001c0002t0005g0348 a0001c0002t0005g0349 a0001c0002t0016g0345 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0282 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0303 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0310 a0002c0003t0001g0312 a0002c0003t0001g0315 a0002c0003t0001g0316 a0002c0003t0001g0318 a0002c0003t0004g0287 a0002c0003t0004g0296 a0002c0003t0004g0317 a0002c0003t0004g0320 a0002c0003t0005g0009 a0002c0003t0007g0304 a0002c0003t0007g0311 a0002c0003t0017g0010 a0002c0009t0001g0283 a0002c0009t0001g0321 a0006c0008t0004g0243 a0006c0008t0004g0302 a0006c0008t0004g0308 a0013c0013t0004g0309	59	364	0.1621	-22	c.796 others(39): Show c.796+2429_796+2450delTGTATATATTATATACGTATAC	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18			chr11	TogoVar
NAALADL2_chr3_174854334_175815548	174855875	TACATACA others(15): Show TACATACATATGAATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02717.hp2 HG02895.hp1 others(2): Show HG01109.hp1 HG02717.hp2 HG02895.hp1 HG02922.hp1 HG03453.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0013 a0002c0004 a0003c0003 others(2): Show a0001c0013 a0002c0004 a0003c0003 a0004c0002 a0008c0019	a0001c0013t0007 a0002c0004t0033 a0003c0003t0004 others(2): Show a0001c0013t0007 a0002c0004t0033 a0003c0003t0004 a0004c0002t0021 a0008c0019t0017	a0001c0013t0007g0021 a0002c0004t0033g0022 a0003c0003t0004g0020 others(2): Show a0001c0013t0007g0021 a0002c0004t0033g0022 a0003c0003t0004g0020 a0004c0002t0021g0003 a0008c0019t0017g0004	5	64	0.0781	-22	c.-35 others(33): Show c.-3532_-3511delACATACATATGAATATATATAC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding		3458		chr3	TogoVar
NAALADL2_chr3_174854334_175815548	174894594	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0007 a0012c0017t0007	a0012c0017t0007g0025 a0012c0017t0007g0025	1	64	0.0156	-22	c.43+ others(39): Show c.43+35172_43+35193delAAAAAAAAAAAAAAAAAAAAAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175314666	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01074.hp1 others(12): Show HG00639.hp1 HG00741.hp2 HG01074.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG02055.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02895.hp1 HG03130.hp2 HG03225.hp1 NA18906.hp2 NA19043.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0013	a0001c0001 a0002c0005 a0003c0003 others(10): Show a0001c0001 a0002c0005 a0003c0003 a0003c0007 a0004c0002 a0005c0006 a0006c0009 a0007c0012 a0008c0018 a0008c0019 a0010c0020 a0012c0017 a0013c0016	a0001c0001t0002 a0002c0005t0023 a0003c0003t0016 others(12): Show a0001c0001t0002 a0002c0005t0023 a0003c0003t0016 a0003c0007t0006 a0004c0002t0002 a0004c0002t0008 a0004c0002t0034 a0005c0006t0001 a0006c0009t0025 a0007c0012t0029 a0008c0018t0001 a0008c0019t0017 a0010c0020t0028 a0012c0017t0007 a0013c0016t0002	a0001c0001t0002g0012 a0002c0005t0023g0045 a0003c0003t0016g0060 others(12): Show a0001c0001t0002g0012 a0002c0005t0023g0045 a0003c0003t0016g0060 a0003c0007t0006g0041 a0004c0002t0002g0048 a0004c0002t0008g0006 a0004c0002t0034g0055 a0005c0006t0001g0057 a0006c0009t0025g0035 a0007c0012t0029g0024 a0008c0018t0001g0043 a0008c0019t0017g0004 a0010c0020t0028g0001 a0012c0017t0007g0025 a0013c0016t0002g0059	15	64	0.2344	-22	c.940 others(39): Show c.940-9474_940-9453delTATATATATATATATATATATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175504565	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02615.hp2 HG02895.hp1 others(2): Show HG01978.hp1 HG02615.hp2 HG02895.hp1 HG03453.hp1 NA19043.hp1	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0011	a0002c0005 a0003c0003 a0003c0007 others(2): Show a0002c0005 a0003c0003 a0003c0007 a0008c0019 a0011c0021	a0002c0005t0032 a0003c0003t0001 a0003c0007t0001 others(2): Show a0002c0005t0032 a0003c0003t0001 a0003c0007t0001 a0008c0019t0017 a0011c0021t0003	a0002c0005t0032g0050 a0003c0003t0001g0056 a0003c0007t0001g0064 others(2): Show a0002c0005t0032g0050 a0003c0003t0001g0056 a0003c0007t0001g0064 a0008c0019t0017g0004 a0011c0021t0003g0042	5	64	0.0781	-22	c.165 others(43): Show c.1653+32842_1653+32863delTCTCTCTCTCTCTCTCTCTCTC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175591784	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG02055.hp2 others(4): Show HG00741.hp2 HG01261.hp2 HG02055.hp2 HG02809.hp1 HG02965.hp2 HG03486.hp2 NA18522.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0001 a0001c0013 a0002c0004 others(2): Show a0001c0001 a0001c0013 a0002c0004 a0004c0002 a0013c0016	a0001c0001t0003 a0001c0001t0022 a0001c0001t0035 others(4): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0035 a0001c0013t0013 a0002c0004t0014 a0004c0002t0006 a0013c0016t0002	a0001c0001t0003g0015 a0001c0001t0022g0002 a0001c0001t0035g0027 others(4): Show a0001c0001t0003g0015 a0001c0001t0022g0002 a0001c0001t0035g0027 a0001c0013t0013g0018 a0002c0004t0014g0058 a0004c0002t0006g0039 a0013c0016t0002g0059	7	64	0.1094	-22	c.180 others(43): Show c.1800+15619_1800+15640delATATATATATATATATATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175667219	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0008 a0004c0002t0034 a0004c0002t0008 a0004c0002t0034	a0004c0002t0008g0006 a0004c0002t0034g0055 a0004c0002t0008g0006 a0004c0002t0034g0055	2	64	0.0313	-22	c.189 others(43): Show c.1896+39857_1896+39878delAAGAAAGAAAGAAAGAAAGAAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175730395	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA21309.hp1 HG02559.hp1 NA21309.hp1	a0003 a0014 a0003 a0014	a0003c0003 a0014c0022 a0003c0003 a0014c0022	a0003c0003t0002 a0014c0022t0001 a0003c0003t0002 a0014c0022t0001	a0003c0003t0002g0017 a0014c0022t0001g0034 a0003c0003t0002g0017 a0014c0022t0001g0034	2	64	0.0313	-22	c.189 others(41): Show c.1897-6883_1897-6862delTATATATATATATATATATATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175730423	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03453.hp2 HG02717.hp1 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0037 a0003c0003t0004 a0001c0001t0037 a0003c0003t0004	a0001c0001t0037g0038 a0003c0003t0004g0020 a0001c0001t0037g0038 a0003c0003t0004g0020	2	64	0.0313	-22	c.189 others(41): Show c.1897-6881_1897-6860delTATATATATATATATATATACA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175811454	AATATATA others(15): Show AATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01261.hp1 HG02055.hp2 others(4): Show HG01109.hp1 HG01261.hp1 HG02055.hp2 HG02109.hp2 HG02559.hp2 HG02615.hp2 HG02809.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0011 a0015	a0001c0001 a0002c0004 a0007c0012 others(2): Show a0001c0001 a0002c0004 a0007c0012 a0011c0021 a0015c0024	a0001c0001t0003 a0002c0004t0003 a0002c0004t0033 others(4): Show a0001c0001t0003 a0002c0004t0003 a0002c0004t0033 a0007c0012t0003 a0007c0012t0029 a0011c0021t0003 a0015c0024t0003	a0001c0001t0003g0015 a0002c0004t0003g0028 a0002c0004t0033g0022 others(4): Show a0001c0001t0003g0015 a0002c0004t0003g0028 a0002c0004t0033g0022 a0007c0012t0003g0033 a0007c0012t0029g0024 a0011c0021t0003g0042 a0015c0024t0003g0023	7	64	0.1094	-22	c.82 others(33): Show c.8252_*8273delATATATATATATATATATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding		907		chr3	TogoVar
NACC2_chr9_136001537_136100289	136006622	TGGATTTC others(15): Show TGGATTTCCACTGTCTGAAACGG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0092 a0001c0003t0092	a0001c0003t0092g0081 a0001c0003t0092g0081	1	348	0.0029	-22	c.48 others(33): Show c.4872_*4893delCCGTTTCAGACAGTGGAAATCC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	6/6	4872		chr9	TogoVar
NACC2_chr9_136001537_136100289	136099662	TGGGGGCG others(15): Show TGGGGGCGTGTGTGCGGGGTGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0045 a0001c0007t0045	a0001c0007t0045g0058 a0001c0007t0045g0058	1	348	0.0029	-22	c.-45 others(33): Show c.-4555_-4534delGCCACCCCGCACACACGCCCCC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding		4374		chr9	TogoVar
NADK_chr1_1746232_1783470	1754482	TCCCTGGG others(15): Show TCCCTGGGACCGAAGTCGCCCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(132): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02698.hp2 HG02738.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19062.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0007 a0009	a0001c0001 a0002c0002 a0002c0011 others(5): Show a0001c0001 a0002c0002 a0002c0011 a0002c0018 a0004c0004 a0006c0007 a0007c0019 a0009c0013	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(12): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0009 a0002c0002t0013 a0002c0002t0017 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0011t0001 a0002c0018t0016 a0004c0004t0001 a0006c0007t0001 a0007c0019t0001 a0009c0013t0009	a0001c0001t0002g0082 a0001c0001t0004g0200 a0002c0002t0001g0003 others(113): Show a0001c0001t0002g0082 a0001c0001t0004g0200 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0364 a0002c0002t0001g0365 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0009g0051 a0002c0002t0009g0090 a0002c0002t0013g0067 a0002c0002t0013g0068 a0002c0002t0017g0099 a0002c0002t0020g0063 a0002c0002t0021g0137 a0002c0002t0022g0061 a0002c0011t0001g0156 a0002c0011t0001g0160 a0002c0018t0016g0032 a0004c0004t0001g0002 a0004c0004t0001g0060 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0098 a0004c0004t0001g0352 a0006c0007t0001g0058 a0006c0007t0001g0119 a0006c0007t0001g0122 a0006c0007t0001g0123 a0006c0007t0001g0157 a0007c0019t0001g0150 a0009c0013t0009g0073	135	414	0.3261	-22	c.843 others(35): Show c.843+40_843+61delTGGGGCGACTTCGGTCCCAGGG	NADK	ENSG00000008130.15	transcript	ENST00000341426.9	protein_coding	8/11			chr1	TogoVar
NADK_chr1_1746232_1783470	1766410	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(37): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG02027.hp2 HG02040.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp2 NA18950.hp2 NA18961.hp2 NA18962.hp1 NA18972.hp2 NA19009.hp1 NA19062.hp1 NA19080.hp1 NA19082.hp1 NA20129.hp2 NA20300.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0003c0017 others(1): Show a0001c0001 a0003c0003 a0003c0017 a0005c0010	a0001c0001t0003 a0001c0001t0004 a0001c0001t0023 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0023 a0003c0003t0010 a0003c0017t0010 a0005c0010t0007 a0005c0010t0024	a0001c0001t0003g0344 a0001c0001t0003g0354 a0001c0001t0003g0355 others(30): Show a0001c0001t0003g0344 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0004g0001 a0001c0001t0004g0026 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0187 a0001c0001t0004g0239 a0001c0001t0004g0301 a0001c0001t0004g0304 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0315 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0343 a0001c0001t0004g0346 a0001c0001t0004g0353 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0004g0360 a0001c0001t0004g0361 a0001c0001t0023g0350 a0003c0003t0010g0235 a0003c0003t0010g0238 a0003c0017t0010g0236 a0005c0010t0007g0240 a0005c0010t0024g0204	40	414	0.0966	-22	c.-40 others(37): Show c.-40-986_-40-965delTTTTTTTTTTTTTTTTTTTTTT	NADK	ENSG00000008130.15	transcript	ENST00000341426.9	protein_coding	1/11			chr1	TogoVar
NADSYN1_chr11_71448203_71506816	71503666	CCAGTTAT others(15): Show CCAGTTATAGGGTGATGTCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG00642.hp1 others(34): Show HG00280.hp1 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02572.hp1 HG02683.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG03139.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG04199.hp2 NA18612.hp1 NA18944.hp2 NA18950.hp2 NA18959.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18987.hp2 NA18991.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19079.hp1	a0003 a0003	a0003c0004 a0003c0009 a0003c0004 a0003c0009	a0003c0004t0001 a0003c0004t0002 a0003c0009t0001 a0003c0004t0001 a0003c0004t0002 a0003c0009t0001	a0003c0004t0001g0012 a0003c0004t0001g0013 a0003c0004t0001g0037 others(28): Show a0003c0004t0001g0012 a0003c0004t0001g0013 a0003c0004t0001g0037 a0003c0004t0001g0109 a0003c0004t0001g0171 a0003c0004t0001g0218 a0003c0004t0001g0220 a0003c0004t0001g0226 a0003c0004t0001g0227 a0003c0004t0001g0229 a0003c0004t0001g0230 a0003c0004t0001g0231 a0003c0004t0001g0232 a0003c0004t0001g0233 a0003c0004t0001g0234 a0003c0004t0001g0253 a0003c0004t0001g0254 a0003c0004t0001g0255 a0003c0004t0002g0036 a0003c0004t0002g0185 a0003c0004t0002g0186 a0003c0004t0002g0216 a0003c0004t0002g0221 a0003c0004t0002g0222 a0003c0004t0002g0223 a0003c0004t0002g0224 a0003c0004t0002g0225 a0003c0004t0002g0228 a0003c0009t0001g0164 a0003c0009t0001g0165 a0003c0009t0001g0166	37	354	0.1045	-22	c.23 others(33): Show c.2315_*2336delCAGTTATAGGGTGATGTCCCCA	NADSYN1	ENSG00000172890.13	transcript	ENST00000319023.7	protein_coding		1851		chr11	TogoVar
NAIP_chr5_70963166_71030339	70971873	GTTTTTAA others(15): Show GTTTTTAAAAAAAAAAAATTTTT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0138 a0001c0004t0002g0138	1	141	0.0071	-22	c.384 others(41): Show c.3848-1427_3848-1406delAAAAATTTTTTTTTTTTAAAAA	NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	16/16			chr5	TogoVar
NAIP_chr5_70963166_71030339	71002992	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02615.hp1 others(14): Show HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02965.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA19043.hp2	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0007	a0002c0002 a0002c0011 a0004c0008 others(2): Show a0002c0002 a0002c0011 a0004c0008 a0006c0013 a0007c0012	a0002c0002t0008 a0002c0002t0009 a0002c0002t0013 others(11): Show a0002c0002t0008 a0002c0002t0009 a0002c0002t0013 a0002c0002t0014 a0002c0002t0018 a0002c0002t0022 a0002c0002t0023 a0002c0002t0029 a0002c0002t0030 a0002c0011t0008 a0004c0008t0017 a0004c0008t0019 a0006c0013t0008 a0007c0012t0009	a0002c0002t0008g0122 a0002c0002t0008g0123 a0002c0002t0009g0126 others(14): Show a0002c0002t0008g0122 a0002c0002t0008g0123 a0002c0002t0009g0126 a0002c0002t0009g0128 a0002c0002t0009g0129 a0002c0002t0013g0010 a0002c0002t0014g0003 a0002c0002t0018g0004 a0002c0002t0022g0102 a0002c0002t0023g0103 a0002c0002t0029g0124 a0002c0002t0030g0127 a0002c0011t0008g0121 a0004c0008t0017g0012 a0004c0008t0019g0013 a0006c0013t0008g0120 a0007c0012t0009g0130	17	141	0.1206	-22	c.750 others(37): Show c.750+762_750+783delGTGTGTGTGTGTGTGTGTGTGT	NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	6/16			chr5	TogoVar
NALCN_chr13_101048776_101421508	101397066	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00735.hp1 others(24): Show HG00408.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01496.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02129.hp2 HG02132.hp1 HG02300.hp1 HG02300.hp2 HG03490.hp2 HG04184.hp2 NA18943.hp2 NA18959.hp2 NA18962.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA19003.hp1 NA19082.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0003c0029	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0002 a0001c0003t0001 a0001c0007t0002 a0003c0029t0005	a0001c0001t0001g0107 a0001c0001t0005g0101 a0001c0001t0006g0109 others(24): Show a0001c0001t0001g0107 a0001c0001t0005g0101 a0001c0001t0006g0109 a0001c0001t0006g0113 a0001c0001t0015g0125 a0001c0002t0002g0086 a0001c0002t0002g0099 a0001c0002t0002g0103 a0001c0002t0002g0105 a0001c0002t0002g0108 a0001c0002t0002g0119 a0001c0002t0002g0131 a0001c0002t0002g0152 a0001c0003t0001g0098 a0001c0003t0001g0102 a0001c0003t0001g0104 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0124 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0130 a0001c0003t0001g0134 a0001c0003t0001g0149 a0001c0007t0002g0129 a0003c0029t0005g0114	27	176	0.1534	-22	c.109 others(39): Show c.109-1723_109-1702delTATATATATATATATATATATA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	2/43			chr13	TogoVar
NALF1_chr13_107158510_107872496	107325845	CACACACA others(15): Show CACACACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0118 a0002c0003t0006g0118	1	128	0.0078	-22	c.916 others(43): Show c.916-115112_916-115091delATATATATATATGTGTGTGTGT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0208 a0001c0002t0002g0208	1	336	0.0030	-22	c.743 others(37): Show c.743+602_743+623delTTTTTTTTTTTTTTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NAP1L1_chr12_76031585_76089685	76076549	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	356	0.0028	-22	c.-20 others(39): Show c.-20-2332_-20-2311delATATATATATATATATATATAT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	1/14			chr12	TogoVar
NASP_chr1_45579041_45623893	45586264	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp1 HG03579.hp2 HG02486.hp1 HG03041.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011	3	300	0.0100	-22	c.59+ others(37): Show c.59+2060_59+2081delTGTGTGTGTGTGTGTGTGTGGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14			chr1	TogoVar
NASP_chr1_45579041_45623893	45586276	GTGTGTGT others(15): Show GTGTGTGTGGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	300	0.0033	-22	c.59+ others(37): Show c.59+2072_59+2093delTGTGTGTGGTGTGTGTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14			chr1	TogoVar
NASP_chr1_45579041_45623893	45595127	TTTTGTGT others(15): Show TTTTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0282 a0003c0006t0001g0282	1	300	0.0033	-22	c.107 others(39): Show c.107+3859_107+3880delTTGTGTGTGTGTGTGTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NASP_chr1_45579041_45623893	45595129	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp2 NA18906.hp1 HG02451.hp1 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0226 a0001c0002t0001g0246 a0001c0002t0001g0220 a0001c0002t0001g0226 a0001c0002t0001g0246	3	300	0.0100	-22	c.107 others(39): Show c.107+3897_107+3918delGTGTGTGTGTGTGTGTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAT10_chr11_34100629_34151908	34103733	CACAAAAA others(15): Show CACAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02109.hp1 HG02895.hp1 others(13): Show HG00738.hp1 HG02109.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03654.hp2 HG03669.hp1 NA18522.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0012	a0001c0003 a0001c0022 a0004c0008 others(2): Show a0001c0003 a0001c0022 a0004c0008 a0005c0012 a0012c0023	a0001c0003t0001 a0001c0003t0003 a0001c0022t0001 others(3): Show a0001c0003t0001 a0001c0003t0003 a0001c0022t0001 a0004c0008t0003 a0005c0012t0001 a0012c0023t0001	a0001c0003t0001g0002 a0001c0003t0001g0033 a0001c0003t0001g0035 others(11): Show a0001c0003t0001g0002 a0001c0003t0001g0033 a0001c0003t0001g0035 a0001c0003t0001g0037 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0003g0032 a0001c0003t0003g0042 a0001c0022t0001g0036 a0004c0008t0003g0021 a0004c0008t0003g0022 a0004c0008t0003g0023 a0005c0012t0001g0038 a0012c0023t0001g0002	16	262	0.0611	-22	c.-20 others(33): Show c.-2074_-2053delACAAAAAAAAAAAAAAAAAAAA	NAT10	ENSG00000135372.10	transcript	ENST00000257829.8	protein_coding		1895		chr11	TogoVar
NAT10_chr11_34100629_34151908	34103735	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	262	0.0038	-22	c.-20 others(33): Show c.-2072_-2051delAAAAAAAAAAAAAAAAAAAAAA	NAT10	ENSG00000135372.10	transcript	ENST00000257829.8	protein_coding		1893		chr11	TogoVar
NAV2_chr11_19707837_20126601	19741685	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0051 a0004c0017t0001g0051	1	166	0.0060	-22	c.267 others(41): Show c.267+27725_267+27746delGTATATATATATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19741687	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG02976.hp1 others(1): Show HG02647.hp2 HG02723.hp1 HG02976.hp1 HG03225.hp1	a0001 a0003 a0022 others(1): Show a0001 a0003 a0022 a0023	a0001c0072 a0003c0041 a0022c0141 others(1): Show a0001c0072 a0003c0041 a0022c0141 a0023c0140	a0001c0072t0001 a0003c0041t0028 a0022c0141t0031 others(1): Show a0001c0072t0001 a0003c0041t0028 a0022c0141t0031 a0023c0140t0005	a0001c0072t0001g0079 a0003c0041t0028g0138 a0022c0141t0031g0166 others(1): Show a0001c0072t0001g0079 a0003c0041t0028g0138 a0022c0141t0031g0166 a0023c0140t0005g0165	4	166	0.0241	-22	c.267 others(41): Show c.267+27745_267+27766delATATATATATATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106153	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18942.hp1 NA18951.hp2 others(4): Show HG01952.hp2 NA18942.hp1 NA18951.hp2 NA18979.hp2 NA19066.hp1 NA19088.hp2 NA19090.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0010	a0001c0034 a0001c0036 a0002c0099 others(4): Show a0001c0034 a0001c0036 a0002c0099 a0002c0100 a0006c0023 a0008c0097 a0010c0038	a0001c0034t0041 a0001c0036t0046 a0002c0099t0002 others(4): Show a0001c0034t0041 a0001c0036t0046 a0002c0099t0002 a0002c0100t0002 a0006c0023t0003 a0008c0097t0002 a0010c0038t0002	a0001c0034t0041g0112 a0001c0036t0046g0123 a0002c0099t0002g0053 others(4): Show a0001c0034t0041g0112 a0001c0036t0046g0123 a0002c0099t0002g0053 a0002c0100t0002g0052 a0006c0023t0003g0027 a0008c0097t0002g0118 a0010c0038t0002g0054	7	166	0.0422	-22	c.684 others(39): Show c.6841+430_6841+451delATATATATATATATATATATGT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106161	ATATATAT others(15): Show ATATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0038 a0001c0068t0038	a0001c0068t0038g0004 a0001c0068t0038g0004	1	166	0.0060	-22	c.684 others(39): Show c.6841+450_6841+471delGTGTGTGTATATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106183	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03139.hp2 HG02258.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0044 a0003c0065 a0001c0044 a0003c0065	a0001c0044t0003 a0003c0065t0003 a0001c0044t0003 a0003c0065t0003	a0001c0044t0003g0005 a0003c0065t0003g0080 a0001c0044t0003g0005 a0003c0065t0003g0080	2	166	0.0121	-22	c.684 others(39): Show c.6841+482_6841+503delATATATATATATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV3_chr12_77825894_78218010	77832533	TCATGAGA others(15): Show TCATGAGAGATTCTGATACAGGC	T T	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0013 a0001c0005t0003g0013	1	186	0.0054	-22	c.243 others(37): Show c.243+830_243+851delCATGAGAGATTCTGATACAGGC	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	1/39			chr12	TogoVar
NAV3_chr12_77825894_78218010	78187256	TCTGAGCC others(15): Show TCTGAGCCAGCTAAGTGATTTAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02109.hp1 HG02258.hp1	a0001 a0003 a0001 a0003	a0001c0049 a0003c0029 a0001c0049 a0003c0029	a0001c0049t0054 a0003c0029t0028 a0001c0049t0054 a0003c0029t0028	a0001c0049t0054g0150 a0003c0029t0028g0004 a0001c0049t0054g0150 a0003c0029t0028g0004	2	186	0.0108	-22	c.579 others(39): Show c.5791-989_5791-968delGAGCCAGCTAAGTGATTTACCT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	31/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NBAS_chr2_15161916_15566334	15327049	CAATAAAA others(15): Show CAATAAAAAGTAATAAGTAATAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00558.hp2 others(75): Show HG00280.hp1 HG00323.hp1 HG00558.hp2 HG00733.hp2 HG01070.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03453.hp2 HG03491.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18943.hp2 NA18968.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA18991.hp1 NA18992.hp2 NA18999.hp2 NA19005.hp2 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19060.hp1 NA19064.hp1 NA19077.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0007 a0008 a0009 a0012 a0013 a0015 a0016 a0019 a0022 a0025 a0028 a0029 a0032 a0035	a0001c0001 a0001c0003 a0001c0035 others(20): Show a0001c0001 a0001c0003 a0001c0035 a0002c0002 a0003c0005 a0003c0010 a0003c0011 a0003c0034 a0007c0007 a0008c0014 a0009c0013 a0012c0027 a0012c0036 a0013c0015 a0015c0016 a0016c0053 a0019c0050 a0022c0030 a0025c0037 a0028c0026 a0029c0025 a0032c0039 a0035c0046	a0001c0001t0001 a0001c0003t0001 a0001c0035t0001 others(20): Show a0001c0001t0001 a0001c0003t0001 a0001c0035t0001 a0002c0002t0001 a0003c0005t0001 a0003c0010t0001 a0003c0011t0001 a0003c0034t0001 a0007c0007t0001 a0008c0014t0001 a0009c0013t0001 a0012c0027t0001 a0012c0036t0001 a0013c0015t0001 a0015c0016t0001 a0016c0053t0001 a0019c0050t0001 a0022c0030t0001 a0025c0037t0001 a0028c0026t0001 a0029c0025t0001 a0032c0039t0001 a0035c0046t0001	a0001c0001t0001g0006 a0001c0001t0001g0042 a0001c0001t0001g0051 others(75): Show a0001c0001t0001g0006 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0003t0001g0014 a0001c0003t0001g0030 a0001c0003t0001g0033 a0001c0035t0001g0104 a0002c0002t0001g0175 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0207 a0002c0002t0001g0213 a0003c0005t0001g0052 a0003c0005t0001g0053 a0003c0005t0001g0063 a0003c0005t0001g0076 a0003c0005t0001g0092 a0003c0005t0001g0099 a0003c0005t0001g0122 a0003c0010t0001g0097 a0003c0011t0001g0022 a0003c0011t0001g0034 a0003c0034t0001g0050 a0007c0007t0001g0156 a0007c0007t0001g0217 a0007c0007t0001g0218 a0007c0007t0001g0220 a0008c0014t0001g0134 a0009c0013t0001g0131 a0009c0013t0001g0132 a0012c0027t0001g0026 a0012c0036t0001g0094 a0013c0015t0001g0002 a0013c0015t0001g0223 a0015c0016t0001g0177 a0015c0016t0001g0201 a0016c0053t0001g0224 a0019c0050t0001g0093 a0022c0030t0001g0080 a0025c0037t0001g0079 a0028c0026t0001g0021 a0029c0025t0001g0003 a0032c0039t0001g0086 a0035c0046t0001g0188	78	224	0.3482	-22	c.458 others(39): Show c.4582+679_4582+700delTTATTACTTATTACTTTTTATT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	38/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15475541	TTTTTTAT others(15): Show TTTTTTATACTACAACCATTACC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0031 a0031	a0031c0031 a0031c0031	a0031c0031t0001 a0031c0031t0001	a0031c0031t0001g0029 a0031c0031t0001g0029	1	224	0.0045	-22	c.134 others(39): Show c.1341+124_1341+145delGGTAATGGTTGTAGTATAAAAA	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	14/51			chr2	TogoVar
NBDY_chrX_56724243_56824179	56814918	AATAGAGA others(15): Show AATAGAGAATATATTTTTGGAAT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0093 a0001c0001t0014g0093	1	160	0.0063	-22	c.16 others(41): Show c.167-2398_*167-2377delGAGAATATATTTTTGGAATATA	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
NBEAL1_chr2_203009875_203230194	203205750	TCTTTACC others(15): Show TCTTTACCAAATAAATTTAGGAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0016 a0001c0001t0024g0016	1	292	0.0034	-22	c.750 others(41): Show c.7507-2886_7507-2865delCTTTACCAAATAAATTTAGGAA	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	51/55			chr2	TogoVar
NBEA_chr13_34937270_35677736	35445796	ATATATAT others(15): Show ATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18990.hp2 NA19007.hp1 HG00544.hp1 NA18990.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0003 a0001c0002t0001 a0001c0012t0001 a0001c0001t0003 a0001c0002t0001 a0001c0012t0001	a0001c0001t0003g0078 a0001c0002t0001g0101 a0001c0012t0001g0103 a0001c0001t0003g0078 a0001c0002t0001g0101 a0001c0012t0001g0103	3	122	0.0246	-22	c.630 others(41): Show c.6305-6282_6305-6261delATATATATGTATATATATATAT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	39/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBPF10_chr1_146059711_146149804	146076238	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG01074.hp1 others(2): Show HG00544.hp1 HG00741.hp2 HG01074.hp1 HG02735.hp2 HG03225.hp2	a0018 a0031 a0034 others(2): Show a0018 a0031 a0034 a0142 a0181	a0018c0050 a0031c0186 a0034c0181 others(2): Show a0018c0050 a0031c0186 a0034c0181 a0142c0190 a0181c0193	a0018c0050t0001 a0031c0186t0003 a0034c0181t0008 others(2): Show a0018c0050t0001 a0031c0186t0003 a0034c0181t0008 a0142c0190t0003 a0181c0193t0004	a0018c0050t0001g0035 a0031c0186t0003g0205 a0034c0181t0008g0216 others(2): Show a0018c0050t0001g0035 a0031c0186t0003g0205 a0034c0181t0008g0216 a0142c0190t0003g0188 a0181c0193t0004g0238	5	283	0.0177	-22	c.962 others(39): Show c.9624-219_9624-198delGTGTGTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	77/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146076282	CACACACA others(15): Show CACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0140 a0140	a0140c0148 a0140c0148	a0140c0148t0001 a0140c0148t0001	a0140c0148t0001g0152 a0140c0148t0001g0152	1	283	0.0035	-22	c.962 others(39): Show c.9624-263_9624-242delCTGTGTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	77/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146076284	CACACACA others(15): Show CACACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0086 a0086	a0086c0096 a0086c0096	a0086c0096t0005 a0086c0096t0005	a0086c0096t0005g0158 a0086c0096t0005g0158	1	283	0.0035	-22	c.962 others(39): Show c.9624-265_9624-244delCTCTGTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	77/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146076286	CACACACA others(15): Show CACACACACACACACACAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0127 a0127	a0127c0126 a0127c0126	a0127c0126t0002 a0127c0126t0002	a0127c0126t0002g0095 a0127c0126t0002g0095	1	283	0.0035	-22	c.962 others(39): Show c.9624-267_9624-246delCTCTCTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	77/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146080974	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 NA18953.hp1 HG00544.hp1 HG00558.hp1 NA18953.hp1	a0181 a0182 a0199 a0181 a0182 a0199	a0181c0193 a0182c0218 a0199c0202 a0181c0193 a0182c0218 a0199c0202	a0181c0193t0004 a0182c0218t0004 a0199c0202t0004 a0181c0193t0004 a0182c0218t0004 a0199c0202t0004	a0181c0193t0004g0238 a0182c0218t0004g0239 a0199c0202t0004g0234 a0181c0193t0004g0238 a0182c0218t0004g0239 a0199c0202t0004g0234	3	283	0.0106	-22	c.889 others(39): Show c.8892-219_8892-198delGTGTGTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	71/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146085710	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0067 a0067	a0067c0065 a0067c0065	a0067c0065t0019 a0067c0065t0019	a0067c0065t0019g0061 a0067c0065t0019g0061	1	283	0.0035	-22	c.816 others(39): Show c.8160-219_8160-198delGTGTGTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	65/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146085740	CACACACA others(15): Show CACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02027.hp1 HG02132.hp2 HG02015.hp2 HG02027.hp1 HG02132.hp2	a0005 a0077 a0005 a0077	a0005c0073 a0005c0075 a0077c0082 a0005c0073 a0005c0075 a0077c0082	a0005c0073t0001 a0005c0075t0001 a0077c0082t0001 a0005c0073t0001 a0005c0075t0001 a0077c0082t0001	a0005c0073t0001g0043 a0005c0075t0001g0076 a0077c0082t0001g0049 a0005c0073t0001g0043 a0005c0075t0001g0076 a0077c0082t0001g0049	3	283	0.0106	-22	c.816 others(39): Show c.8160-249_8160-228delCTGTGTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	65/89			chr1	TogoVar
NBPF11_chr1_148097151_148157281	148108838	GAAAGACA others(15): Show GAAAGACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0000 a0000	a0000c0039 a0000c0039	a0000c0039t0017 a0000c0039t0017	a0000c0039t0017g0285 a0000c0039t0017g0285	1	388	0.0026	-22	c.185 others(39): Show c.1854-206_1854-185delGTGTGTGTGTGTGTGTGTCTTT	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	17/23			chr1	TogoVar
NBPF11_chr1_148097151_148157281	148115164	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0004 a0000c0004t0004	a0000c0004t0004g0250 a0000c0004t0004g0250	1	388	0.0026	-22	c.158 others(39): Show c.1585+607_1585+628delTTTTTTTTTTTTTTTTTTTTTT	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	14/23			chr1	TogoVar
NBPF11_chr1_148097151_148157281	148132723	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	388	0.0026	-22	c.-36 others(39): Show c.-36+2927_-36+2948delAAAAAAAAAAAAAAAAAAAAAA	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	4/23			chr1	TogoVar

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Search Results (Total: 9631 hits)