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
NEO1_chr15_73047463_73310205	73295125	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	324	0.0031	40	c.390 others(59): Show c.3901+1595_3901+1596insATATATATATATATATATATATATAT ATATATATATATAT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEU3_chr11_74983933_75015907	75013999	A A	ATTATTTT others(33): Show ATTATTTTTGTTATTGTTCTTTTTTTTTTTTTTGTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	394	0.0025	40	c.75 others(51): Show c.7507_*7508insTTATTTTTGTTATTGTTCTTTTTTTTTTTTTTGT TCTTTT	NEU3	ENSG00000162139.10	transcript	ENST00000294064.9	protein_coding		3093		chr11	TogoVar
NEU4_chr2_241804193_241822413	241805216	C C	CCCCCTCA others(33): Show CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	319	0.0031	40	c.-40 others(51): Show c.-4062_-4061insCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3976		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806424	T T	TCCCCCCT others(33): Show TCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	40	c.-28 others(51): Show c.-2854_-2853insCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCC TCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2768		chr2	TogoVar
NEUROD6_chr7_31332465_31345726	31334260	T T	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	40	c.39 others(51): Show c.3994_*3995insGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	NEUROD6	ENSG00000164600.7	transcript	ENST00000297142.4	protein_coding		3204		chr7	TogoVar
NEXN_chr1_77883624_77948895	77887978	C C	CTTCTTCT others(33): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	268	0.0037	40	c.-83 others(49): Show c.-834_-833insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		645		chr1	TogoVar
NEXN_chr1_77883624_77948895	77887987	C C	CTTCTTCT others(33): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	268	0.0037	40	c.-82 others(49): Show c.-825_-824insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		636		chr1	TogoVar
NFATC1_chr18_79390930_79534323	79417624	G G	GGGAGATC others(33): Show GGGAGATCGGCTGTGGTGGGAGATGGGAGATGGGCTGGGCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00609.hp1 others(35): Show HG00423.hp2 HG00544.hp2 HG00609.hp1 HG01192.hp1 HG02027.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02451.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03225.hp1 HG03453.hp2 NA18747.hp1 NA18943.hp2 NA18946.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA19002.hp2 NA19005.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19067.hp1 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0001c0006 a0001c0008 others(9): Show a0001c0001 a0001c0006 a0001c0008 a0001c0017 a0001c0021 a0001c0038 a0002c0002 a0002c0011 a0002c0036 a0002c0039 a0006c0030 a0009c0043	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0006t0004 a0001c0006t0009 a0001c0008t0014 a0001c0017t0003 a0001c0021t0047 a0001c0038t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0002t0015 a0002c0002t0031 a0002c0002t0038 a0002c0002t0044 a0002c0002t0060 a0002c0011t0002 a0002c0011t0004 a0002c0036t0012 a0002c0039t0001 a0006c0030t0005 a0009c0043t0001	a0001c0001t0001g0237 a0001c0001t0001g0250 a0001c0001t0003g0178 others(35): Show a0001c0001t0001g0237 a0001c0001t0001g0250 a0001c0001t0003g0178 a0001c0001t0012g0190 a0001c0001t0014g0267 a0001c0006t0004g0057 a0001c0006t0009g0184 a0001c0008t0014g0197 a0001c0017t0003g0138 a0001c0021t0047g0116 a0001c0038t0002g0090 a0002c0002t0001g0232 a0002c0002t0001g0235 a0002c0002t0001g0248 a0002c0002t0001g0269 a0002c0002t0002g0054 a0002c0002t0002g0061 a0002c0002t0002g0073 a0002c0002t0002g0087 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0150 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0010g0265 a0002c0002t0015g0243 a0002c0002t0015g0249 a0002c0002t0031g0115 a0002c0002t0038g0122 a0002c0002t0044g0107 a0002c0002t0060g0070 a0002c0011t0002g0052 a0002c0011t0002g0053 a0002c0011t0004g0050 a0002c0036t0012g0010 a0002c0039t0001g0226 a0006c0030t0005g0117 a0009c0043t0001g0200	38	322	0.1180	40	c.122 others(59): Show c.1226+6129_1226+6130insCGGCTGTGGTGGGAGATGGGAGATGG GCTGGGCAGGAGAT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79432403	G G	GGCCACAC others(33): Show GGCCACACGAGGTGAGGACGGTCGGCGGGCCCTGGGTCTCT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0224 a0001c0001t0020g0224	1	322	0.0031	40	c.122 others(59): Show c.1227-1170_1227-1169insCGAGGTGAGGACGGTCGGCGGGCCCT GGGTCTCTGCCACA	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532183	A A	ACCCCTCG others(33): Show ACCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	322	0.0031	40	c.46 others(51): Show c.4606_*4607insCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2861		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(33): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02809.hp2 HG01346.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0009 a0001c0004 a0001c0009	a0001c0004t0003 a0001c0009t0004 a0001c0004t0003 a0001c0009t0004	a0001c0004t0003g0148 a0001c0009t0004g0287 a0001c0004t0003g0148 a0001c0009t0004g0287	2	322	0.0062	40	c.46 others(51): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(33): Show TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0029 a0001c0010t0029	a0001c0010t0029g0081 a0001c0010t0029g0081	1	322	0.0031	40	c.46 others(51): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532211	C C	CTGCAGCC others(33): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0008 a0003c0007t0008	a0003c0007t0008g0032 a0003c0007t0008g0032	1	322	0.0031	40	c.46 others(51): Show c.4634_*4635insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2889		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532217	C C	CCCCCCGC others(33): Show CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00741.hp2 others(4): Show HG00140.hp2 HG00735.hp2 HG00741.hp2 HG01081.hp2 HG02615.hp1 HG03540.hp2 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0009 others(3): Show a0001c0001 a0001c0004 a0001c0009 a0001c0025 a0002c0003 a0002c0012	a0001c0001t0001 a0001c0004t0002 a0001c0009t0014 others(4): Show a0001c0001t0001 a0001c0004t0002 a0001c0009t0014 a0001c0025t0002 a0002c0003t0010 a0002c0012t0002 a0002c0012t0006	a0001c0001t0001g0201 a0001c0004t0002g0297 a0001c0009t0014g0277 others(4): Show a0001c0001t0001g0201 a0001c0004t0002g0297 a0001c0009t0014g0277 a0001c0025t0002g0304 a0002c0003t0010g0270 a0002c0012t0002g0086 a0002c0012t0006g0045	7	322	0.0217	40	c.46 others(51): Show c.4640_*4641insCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2895		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532251	C C	CTGCAGCC others(33): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0080 a0001c0010t0002g0080	1	322	0.0031	40	c.46 others(51): Show c.4674_*4675insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2929		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532268	T T	TCGGCAGA others(33): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG03540.hp2 HG00741.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0012 a0001c0009 a0002c0012	a0001c0009t0014 a0002c0012t0002 a0001c0009t0014 a0002c0012t0002	a0001c0009t0014g0277 a0002c0012t0002g0086 a0001c0009t0014g0277 a0002c0012t0002g0086	2	322	0.0062	40	c.46 others(51): Show c.4691_*4692insCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2946		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(33): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG04115.hp2 HG02040.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0002 a0002c0003t0001 a0001c0006t0002 a0002c0003t0001	a0001c0006t0002g0097 a0002c0003t0001g0252 a0001c0006t0002g0097 a0002c0003t0001g0252	2	322	0.0062	40	c.47 others(51): Show c.4754_*4755insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NFATC3_chr16_68080370_68234259	68192243	A A	ATATATAT others(33): Show ATATATATATATATATGTATGTGTATATATATATGTATGTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	1	188	0.0053	40	c.310 others(57): Show c.3106+479_3106+480insATATGTATGTGTATATATATATGTATGT GTATATATATAT	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFIA_chr1_61077561_61467788	61310764	T T	TTTCCTTC others(33): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02451.hp2 NA18522.hp1 others(2): Show HG01361.hp1 HG02451.hp2 NA18522.hp1 NA18990.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0022 a0001c0001t0061 a0001c0002t0002 others(2): Show a0001c0001t0022 a0001c0001t0061 a0001c0002t0002 a0001c0002t0021 a0001c0003t0001	a0001c0001t0022g0045 a0001c0001t0061g0001 a0001c0002t0002g0147 others(2): Show a0001c0001t0022g0045 a0001c0001t0061g0001 a0001c0002t0002g0147 a0001c0002t0021g0058 a0001c0003t0001g0097	5	156	0.0321	40	c.626 others(59): Show c.626-21715_626-21714insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61466716	T T	TATATATA others(33): Show TATATATACATATATATACATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03139.hp1 HG02647.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0017 a0001c0001t0004 a0001c0002t0017	a0001c0001t0004g0146 a0001c0002t0017g0005 a0001c0001t0004g0146 a0001c0002t0017g0005	2	156	0.0128	40	c.11 others(53): Show c.11396_*11397insATATATACATATATATACATATATATATATAT ATACACAC	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3929		chr1	TogoVar
NFIC_chr19_3361583_3474217	3467788	T T	TATATATA others(33): Show TATATATATATATATATACATATATATATATATATATATAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0213 a0001c0001t0213	a0001c0001t0213g0217 a0001c0001t0213g0217	1	300	0.0033	40	c.50 others(51): Show c.5020_*5021insTATATATATATATATACATATATATATATATATA TATAAA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	11/11	5021	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663734	G G	GTGTATGT others(33): Show GTGTATGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0068 a0003c0003t0068	a0003c0003t0068g0038 a0003c0003t0068g0038	1	366	0.0027	40	c.-16 others(61): Show c.-163-10814_-163-10813insATGTGTGTGTGTGTGTATGTGTGT GTATGTGTGTGTATGT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995389	C C	CTGCATGC others(33): Show CTGCATGCAGTATGTATACTGTATATATACACTATGCAGTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02300.hp2 HG01070.hp1 HG02300.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0005 a0001c0011t0001 a0001c0003t0005 a0001c0011t0001	a0001c0003t0005g0136 a0001c0011t0001g0088 a0001c0003t0005g0136 a0001c0011t0001g0088	2	362	0.0055	40	c.-75 others(59): Show c.-75+17678_-75+17679insTACTGCATAGTGTATATATACAGTAT ACATACTGCATGCA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATATATAC others(33): Show ATATATACAGTATGTATACTATATATATACAGTATGTATAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02559.hp2 HG02723.hp2 others(9): Show HG02080.hp2 HG02559.hp2 HG02723.hp2 HG03669.hp1 NA18959.hp2 NA18960.hp2 NA18975.hp2 NA18984.hp2 NA18998.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0002c0006 a0002c0008 a0002c0009 a0002c0010	a0001c0001t0001 a0001c0001t0033 a0001c0004t0004 others(7): Show a0001c0001t0001 a0001c0001t0033 a0001c0004t0004 a0001c0005t0009 a0001c0007t0001 a0002c0006t0001 a0002c0006t0006 a0002c0008t0004 a0002c0009t0005 a0002c0010t0001	a0001c0001t0001g0097 a0001c0001t0033g0106 a0001c0004t0004g0226 others(9): Show a0001c0001t0001g0097 a0001c0001t0033g0106 a0001c0004t0004g0226 a0001c0005t0009g0014 a0001c0005t0009g0017 a0001c0007t0001g0098 a0002c0006t0001g0075 a0002c0006t0006g0018 a0002c0006t0006g0076 a0002c0008t0004g0091 a0002c0009t0005g0077 a0002c0010t0001g0250	12	362	0.0332	40	c.-75 others(59): Show c.-75+17495_-75+17496insGTATACATACTGTATATATATAGTAT ACATACTGTATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHSL2_chrX_71905845_72158286	72039067	T T	TTTTCCTT others(33): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0117 a0001c0001t0047g0117	1	187	0.0054	40	c.281 others(59): Show c.281-92969_281-92930dupTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NID2_chr14_51999809_52074059	52035856	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0096 a0002c0004t0001g0096	1	372	0.0027	40	c.225 others(59): Show c.2257+2890_2257+2891insTATATATATATATATATATATATATA TATATATATATATA	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NINJ2_chr12_559296_668445	582919	A A	ACGCAGGC others(33): Show ACGCAGGCAGGCAGGCATGCTAGAGTGAATGAATGAATGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	404	0.0025	40	c.34- others(57): Show c.34-16781_34-16742dupCCCATTCATTCATTCACTCTAGCATGCC TGCCTGCCTGCG	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	404	0.0025	40	c.33+ others(57): Show c.33+33431_33+33432insATATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03225.hp1 HG01952.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0263 a0001c0001t0001g0052 a0001c0001t0001g0263	2	404	0.0050	40	c.33+ others(57): Show c.33+33431_33+33432insATATATATATATATATATATATTTTTTT TTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	649531	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0398 a0001c0001t0002g0398	1	404	0.0025	40	c.33+ others(57): Show c.33+13796_33+13797insTATATATATATATATATATATATATATA TATATATATATA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NIPAL2_chr8_98184826_98299235	98244266	C C	CGGTGGGC others(33): Show CGGTGGGCGTGGTGATGAGAGGTAGTCTGTAATGATGAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02109.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0115 a0001c0001t0004g0116	2	332	0.0060	40	c.377 others(57): Show c.377-8092_377-8053dupCTCTCATCATTACAGACTACCTCTCATC ACCACGCCCACC	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	3/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98244285	A A	AGGTAGTC others(33): Show AGGTAGTCTGTAATGATGAGAGGGTGGGCGTGGTGATGAGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0190 a0001c0001t0016g0190	1	332	0.0030	40	c.377 others(57): Show c.377-8111_377-8072dupCCTCATCACCACGCCCACCCTCTCATCA TTACAGACTACC	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	3/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98244287	G G	GTAGTCTG others(33): Show GTAGTCTGTAATGATGAGAGGGTGGGCGTGGTGATGAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(66): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp1 HG02135.hp2 HG02572.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18970.hp2 NA18978.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA19000.hp1 NA19001.hp2 NA19011.hp2 NA19030.hp1 NA19054.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0019 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0002c0003t0002 a0002c0003t0003 a0002c0004t0001	a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0036 others(63): Show a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0071 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0143 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0003g0109 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0188 a0001c0001t0003g0235 a0001c0001t0003g0311 a0001c0001t0004g0001 a0001c0001t0004g0018 a0001c0001t0004g0239 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0281 a0001c0001t0004g0319 a0001c0001t0006g0191 a0001c0001t0015g0067 a0001c0001t0019g0158 a0001c0002t0001g0003 a0001c0002t0001g0070 a0001c0002t0001g0080 a0001c0002t0001g0107 a0001c0002t0001g0119 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0197 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0268 a0001c0002t0001g0278 a0001c0002t0005g0081 a0001c0002t0005g0325 a0001c0002t0007g0274 a0002c0003t0002g0187 a0002c0003t0002g0189 a0002c0003t0003g0271 a0002c0004t0001g0269 a0002c0004t0001g0287	69	332	0.2078	40	c.377 others(57): Show c.377-8074_377-8073insTCTCTCATCACCACGCCCACCCTCTCAT CATTACAGACTA	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	3/10			chr8	TogoVar
NIPBL_chr5_36871769_37071413	37013423	T T	TGGGCGGA others(33): Show TGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp2 HG02818.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0170 a0001c0001t0001g0171	2	328	0.0061	40	c.456 others(59): Show c.4561-1224_4561-1185dupCTGCCGGGCGGAGGGGCTCCTCACTT CTCAGACGGGGCGG	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	21/46		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKAIN1_chr1_31174745_31244887	31232396	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	338	0.0030	40	c.54+ others(55): Show c.54+7097_54+7098insATATATATATATATATATATATATATATAT ATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	338	0.0030	40	c.54+ others(55): Show c.54+7069_54+7070insCTCTCTCTCTATATATATATATATATATAT ATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	338	0.0030	40	c.54+ others(55): Show c.54+7069_54+7070insCTCTCTCTATATATATATATATATATATAT ATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN2_chr6_123798865_124830640	124028704	C C	CGTGTATA others(33): Show CGTGTATATATACGTGTATATACGTGTATACACGTATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	66	0.0152	40	c.54+ others(59): Show c.54+224463_54+224502dupGTGTATATACGTGTATACACGTATAT ATGTGTATATATAC	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62394624	T T	TGGTGGCC others(33): Show TGGTGGCCAGGCAGTGGCACTCCTCACTTCCCAGACAGTGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(53): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01952.hp1 HG02004.hp1 HG02135.hp2 HG02258.hp1 HG02559.hp2 HG02809.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03704.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18982.hp1 NA18982.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19090.hp1 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(45): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0040 a0001c0001t0043 a0001c0001t0048 a0001c0001t0050 a0001c0001t0055 a0001c0001t0056 a0001c0001t0063 a0001c0001t0078 a0001c0001t0080 a0001c0001t0099 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0024 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0052 a0001c0002t0054 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0073 a0001c0002t0087 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0010 a0002c0003t0026 a0002c0003t0033 a0002c0003t0039 a0002c0003t0053 a0002c0003t0062 a0002c0003t0081 a0002c0003t0084 a0002c0003t0098 a0003c0005t0095	a0001c0001t0003g0031 a0001c0001t0004g0064 a0001c0001t0006g0121 others(53): Show a0001c0001t0003g0031 a0001c0001t0004g0064 a0001c0001t0006g0121 a0001c0001t0015g0036 a0001c0001t0017g0057 a0001c0001t0021g0085 a0001c0001t0022g0084 a0001c0001t0022g0125 a0001c0001t0040g0051 a0001c0001t0043g0009 a0001c0001t0048g0050 a0001c0001t0050g0062 a0001c0001t0055g0069 a0001c0001t0056g0054 a0001c0001t0063g0056 a0001c0001t0078g0082 a0001c0001t0080g0135 a0001c0001t0099g0083 a0001c0002t0002g0103 a0001c0002t0002g0126 a0001c0002t0003g0015 a0001c0002t0003g0034 a0001c0002t0004g0068 a0001c0002t0005g0022 a0001c0002t0006g0116 a0001c0002t0024g0104 a0001c0002t0024g0113 a0001c0002t0044g0061 a0001c0002t0045g0020 a0001c0002t0046g0019 a0001c0002t0052g0055 a0001c0002t0054g0021 a0001c0002t0057g0030 a0001c0002t0058g0058 a0001c0002t0059g0023 a0001c0002t0060g0024 a0001c0002t0061g0006 a0001c0002t0073g0118 a0001c0002t0087g0124 a0002c0003t0001g0110 a0002c0003t0001g0120 a0002c0003t0002g0101 a0002c0003t0002g0102 a0002c0003t0005g0035 a0002c0003t0005g0048 a0002c0003t0010g0038 a0002c0003t0010g0039 a0002c0003t0026g0041 a0002c0003t0033g0028 a0002c0003t0039g0052 a0002c0003t0053g0033 a0002c0003t0062g0018 a0002c0003t0081g0123 a0002c0003t0084g0108 a0002c0003t0098g0136 a0003c0005t0095g0081	56	144	0.3889	40	c.54+ others(59): Show c.54+145506_54+145507insGCAGTGGCACTCCTCACTTCCCAGAC AGTGCGGTGGCCAG	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62845285	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0078 a0001c0001t0082g0078	1	144	0.0069	40	c.472 others(59): Show c.472-73140_472-73139insTATATATATATATATATATATATATA TATATATATATATA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NLGN4X_chrX_5885042_6233867	6049227	A A	AAGGGGAG others(33): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02071.hp1 HG03239.hp1 others(3): Show HG00408.hp2 HG02071.hp1 HG03239.hp1 NA18950.hp2 NA18956.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0004g0008 a0001c0001t0004g0061 a0001c0002t0003g0021 others(3): Show a0001c0001t0004g0008 a0001c0001t0004g0061 a0001c0002t0003g0021 a0001c0002t0003g0063 a0001c0002t0003g0079 a0001c0002t0003g0106	6	128	0.0469	40	c.473 others(59): Show c.473-19835_473-19796dupCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NLGN4X_chrX_5885042_6233867	6179099	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01981.hp2 HG02071.hp1 others(1): Show HG00741.hp1 HG01981.hp2 HG02071.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0020 a0001c0001t0004g0007 a0001c0001t0004g0008 others(1): Show a0001c0001t0002g0020 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0050	4	128	0.0313	40	c.-30 others(61): Show c.-305-27329_-305-27328insCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	1/5			chrX	TogoVar
NLRP12_chr19_53788741_53829314	53819543	A A	ATATACAT others(33): Show ATATACATACGTATATATGTATGTATACGTATATATATGCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(76): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01168.hp1 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01884.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp2 HG06807.hp1 NA18612.hp1 NA18942.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18959.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18979.hp2 NA18989.hp2 NA18997.hp2 NA19009.hp1 NA19043.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0012 others(2): Show a0001 a0002 a0012 a0019 a0020	a0001c0001 a0001c0016 a0002c0004 others(11): Show a0001c0001 a0001c0016 a0002c0004 a0002c0005 a0002c0006 a0002c0008 a0002c0009 a0002c0034 a0002c0035 a0002c0038 a0012c0033 a0012c0037 a0019c0036 a0020c0032	a0001c0001t0001 a0001c0001t0003 a0001c0016t0002 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0016t0002 a0002c0004t0002 a0002c0004t0005 a0002c0005t0002 a0002c0005t0005 a0002c0006t0002 a0002c0006t0014 a0002c0008t0002 a0002c0008t0005 a0002c0009t0002 a0002c0034t0012 a0002c0035t0002 a0002c0038t0002 a0012c0033t0002 a0012c0037t0002 a0019c0036t0002 a0020c0032t0002	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0003g0108 others(75): Show a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0003g0108 a0001c0016t0002g0046 a0001c0016t0002g0047 a0002c0004t0002g0149 a0002c0004t0002g0159 a0002c0004t0002g0166 a0002c0004t0002g0168 a0002c0004t0002g0170 a0002c0004t0002g0171 a0002c0004t0002g0173 a0002c0004t0002g0174 a0002c0004t0002g0175 a0002c0004t0002g0176 a0002c0004t0002g0185 a0002c0004t0002g0190 a0002c0004t0002g0191 a0002c0004t0002g0192 a0002c0004t0002g0196 a0002c0004t0002g0198 a0002c0004t0002g0201 a0002c0004t0002g0205 a0002c0004t0002g0208 a0002c0004t0002g0209 a0002c0004t0002g0212 a0002c0004t0002g0213 a0002c0004t0002g0215 a0002c0004t0002g0223 a0002c0004t0005g0193 a0002c0005t0002g0147 a0002c0005t0002g0148 a0002c0005t0002g0158 a0002c0005t0002g0161 a0002c0005t0002g0162 a0002c0005t0002g0177 a0002c0005t0002g0178 a0002c0005t0002g0194 a0002c0005t0002g0195 a0002c0005t0002g0203 a0002c0005t0002g0214 a0002c0005t0002g0217 a0002c0005t0002g0218 a0002c0005t0002g0220 a0002c0005t0002g0221 a0002c0005t0005g0172 a0002c0005t0005g0210 a0002c0006t0002g0002 a0002c0006t0002g0179 a0002c0006t0002g0180 a0002c0006t0002g0181 a0002c0006t0002g0182 a0002c0006t0002g0183 a0002c0006t0002g0184 a0002c0006t0002g0186 a0002c0006t0002g0189 a0002c0006t0002g0197 a0002c0006t0002g0199 a0002c0006t0002g0200 a0002c0006t0014g0412 a0002c0008t0002g0187 a0002c0008t0002g0202 a0002c0008t0002g0204 a0002c0008t0002g0206 a0002c0008t0002g0211 a0002c0008t0005g0150 a0002c0009t0002g0151 a0002c0009t0002g0153 a0002c0009t0002g0154 a0002c0009t0002g0155 a0002c0009t0002g0222 a0002c0034t0012g0167 a0002c0035t0002g0169 a0002c0038t0002g0207 a0012c0033t0002g0157 a0012c0037t0002g0152 a0019c0036t0002g0219 a0020c0032t0002g0156	79	416	0.1899	40	c.289 others(57): Show c.289+4342_289+4343insCGCATATATATACGTATACATACATATA TACGTATGTATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819543	A A	ATATATAT others(33): Show ATATATATGCGTATATATGTATGTATACGTATATATATGCG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG02723.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp1 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0002 a0002c0005t0002 a0002c0004t0002 a0002c0005t0002	a0002c0004t0002g0165 a0002c0004t0002g0188 a0002c0005t0002g0001 others(1): Show a0002c0004t0002g0165 a0002c0004t0002g0188 a0002c0005t0002g0001 a0002c0005t0002g0164	5	416	0.0120	40	c.289 others(57): Show c.289+4342_289+4343insCGCATATATATACGTATACATACATATA TACGCATATATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55930884	A A	ATATATAT others(33): Show ATATATATGTATATATATATACGTATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0271 a0004c0013t0001g0271	1	440	0.0023	40	c.319 others(57): Show c.319+1108_319+1109insCGTATATATATATATATACGTATATATA TATACATATATA	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP2_chr19_54961374_55006138	54976810	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0403 a0005c0011t0001g0403	1	429	0.0023	40	c.326 others(55): Show c.326-941_326-940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55849944	A A	AATGTCTG others(33): Show AATGTCTGTAGCCGCGGTGTAATTTCCGAGACTGCGGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02717.hp1 others(7): Show HG01884.hp1 HG02145.hp1 HG02717.hp1 HG02976.hp1 HG03209.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp2 NA19065.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0001c0023 others(3): Show a0001c0001 a0001c0005 a0001c0023 a0002c0002 a0002c0003 a0004c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(7): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0005t0005 a0001c0023t0008 a0002c0002t0008 a0002c0002t0010 a0002c0002t0012 a0002c0003t0012 a0004c0004t0001	a0001c0001t0004g0347 a0001c0001t0005g0355 a0001c0001t0010g0344 others(7): Show a0001c0001t0004g0347 a0001c0001t0005g0355 a0001c0001t0010g0344 a0001c0005t0005g0356 a0001c0023t0008g0357 a0002c0002t0008g0358 a0002c0002t0010g0410 a0002c0002t0012g0222 a0002c0003t0012g0221 a0004c0004t0001g0142	10	424	0.0236	40	c.-65 others(57): Show c.-65-2070_-65-2069insGTCTGTAGCCGCGGTGTAATTTCCGAGA CTGCGGTGTGAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55849994	A A	ACTGCGGT others(33): Show ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0221 a0002c0003t0012g0221	1	424	0.0024	40	c.-65 others(57): Show c.-65-1985_-65-1984insTAGCTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850312	T T	TGGCTGCG others(33): Show TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTTCCGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp2 HG01256.hp2 others(2): Show HG00673.hp1 HG01074.hp2 HG01256.hp2 HG01361.hp1 HG01433.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0002c0021 a0001c0006 a0002c0002 a0002c0021	a0001c0006t0001 a0002c0002t0006 a0002c0021t0002 a0001c0006t0001 a0002c0002t0006 a0002c0021t0002	a0001c0006t0001g0001 a0002c0002t0006g0299 a0002c0021t0002g0323 a0001c0006t0001g0001 a0002c0002t0006g0299 a0002c0021t0002g0323	5	424	0.0118	40	c.-65 others(57): Show c.-65-1690_-65-1689insGTCCGTGGCTGCGGTGTAATTTCCGAGG CTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850312	T T	TGGCTGCG others(33): Show TGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTCCCGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0007 a0001c0033t0007	a0001c0033t0007g0343 a0001c0033t0007g0343	1	424	0.0024	40	c.-65 others(57): Show c.-65-1692_-65-1691insCTTCCCGAGGCTGCGGTGTACTTCCCGA GGCTGCGGTGTA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar

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