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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
NAALADL2_chr3_174854334_175815548	175423028	A A	AAATATAT AAATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02559.hp2 others(2): Show HG01884.hp2 HG02451.hp1 HG02559.hp2 HG03209.hp1 NA18522.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0015	a0001c0001 a0003c0007 a0004c0002 others(1): Show a0001c0001 a0003c0007 a0004c0002 a0015c0024	a0001c0001t0012 a0001c0001t0030 a0003c0007t0024 others(2): Show a0001c0001t0012 a0001c0001t0030 a0003c0007t0024 a0004c0002t0006 a0015c0024t0003	a0001c0001t0012g0031 a0001c0001t0030g0030 a0003c0007t0024g0049 others(2): Show a0001c0001t0012g0031 a0001c0001t0030g0030 a0003c0007t0024g0049 a0004c0002t0006g0039 a0015c0024t0003g0023	5	64	0.0781	7	c.109 others(28): Show c.1091-24200_1091-24199insATATATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175551922	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02258.hp2 HG02300.hp1 others(8): Show HG01169.hp2 HG02258.hp2 HG02300.hp1 HG02559.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG03225.hp1 HG03579.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0008 a0015	a0001c0001 a0001c0013 a0002c0004 others(6): Show a0001c0001 a0001c0013 a0002c0004 a0002c0005 a0004c0002 a0004c0008 a0005c0006 a0008c0018 a0015c0024	a0001c0001t0031 a0001c0001t0037 a0001c0013t0007 others(8): Show a0001c0001t0031 a0001c0001t0037 a0001c0013t0007 a0002c0004t0003 a0002c0005t0023 a0004c0002t0034 a0004c0008t0002 a0005c0006t0001 a0005c0006t0015 a0008c0018t0001 a0015c0024t0003	a0001c0001t0031g0026 a0001c0001t0037g0038 a0001c0013t0007g0021 others(8): Show a0001c0001t0031g0026 a0001c0001t0037g0038 a0001c0013t0007g0021 a0002c0004t0003g0028 a0002c0005t0023g0045 a0004c0002t0034g0055 a0004c0008t0002g0062 a0005c0006t0001g0057 a0005c0006t0015g0008 a0008c0018t0001g0043 a0015c0024t0003g0023	11	64	0.1719	7	c.165 others(28): Show c.1654-24109_1654-24103dupAAAAAAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175607525	G G	GAATAAAT GAATAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp2 HG03209.hp1 others(3): Show HG02922.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 NA18522.hp2 NA18906.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0013 a0004c0002 others(1): Show a0001c0001 a0001c0013 a0004c0002 a0005c0011	a0001c0001t0002 a0001c0001t0030 a0001c0013t0007 others(3): Show a0001c0001t0002 a0001c0001t0030 a0001c0013t0007 a0004c0002t0002 a0004c0002t0026 a0005c0011t0004	a0001c0001t0002g0032 a0001c0001t0030g0030 a0001c0013t0007g0021 others(3): Show a0001c0001t0002g0032 a0001c0001t0030g0030 a0001c0013t0007g0021 a0004c0002t0002g0048 a0004c0002t0026g0011 a0005c0011t0004g0029	6	64	0.0938	7	c.180 others(28): Show c.1801-19765_1801-19764insATAAATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175639318	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG02055.hp1 others(1): Show HG01074.hp1 HG01884.hp2 HG02055.hp1 HG02451.hp2	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0009c0023 a0010c0020 a0001c0001 a0009c0023 a0010c0020	a0001c0001t0002 a0001c0001t0012 a0009c0023t0001 others(1): Show a0001c0001t0002 a0001c0001t0012 a0009c0023t0001 a0010c0020t0028	a0001c0001t0002g0012 a0001c0001t0012g0031 a0009c0023t0001g0037 others(1): Show a0001c0001t0002g0012 a0001c0001t0012g0031 a0009c0023t0001g0037 a0010c0020t0028g0001	4	64	0.0625	7	c.189 others(28): Show c.1896+11946_1896+11952dupTTTTTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175762192	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG00741.hp2 others(21): Show HG00639.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01255.hp1 HG01261.hp2 HG01978.hp2 HG02055.hp2 HG02300.hp2 HG02559.hp1 HG02615.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 NA18522.hp1 NA18906.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0013	a0001c0001 a0002c0004 a0002c0005 others(10): Show a0001c0001 a0002c0004 a0002c0005 a0003c0003 a0003c0007 a0004c0002 a0004c0008 a0005c0006 a0005c0011 a0006c0009 a0006c0010 a0008c0019 a0013c0016	a0001c0001t0003 a0001c0001t0022 a0002c0004t0014 others(21): Show a0001c0001t0003 a0001c0001t0022 a0002c0004t0014 a0002c0004t0033 a0002c0004t0036 a0002c0005t0008 a0002c0005t0011 a0002c0005t0023 a0003c0003t0002 a0003c0003t0004 a0003c0003t0016 a0003c0007t0001 a0003c0007t0038 a0004c0002t0006 a0004c0002t0026 a0004c0008t0010 a0005c0006t0015 a0005c0006t0020 a0005c0011t0001 a0006c0009t0009 a0006c0009t0010 a0006c0010t0009 a0008c0019t0017 a0013c0016t0002	a0001c0001t0003g0015 a0001c0001t0022g0002 a0002c0004t0014g0058 others(21): Show a0001c0001t0003g0015 a0001c0001t0022g0002 a0002c0004t0014g0058 a0002c0004t0033g0022 a0002c0004t0036g0047 a0002c0005t0008g0007 a0002c0005t0011g0019 a0002c0005t0023g0045 a0003c0003t0002g0017 a0003c0003t0004g0046 a0003c0003t0016g0060 a0003c0007t0001g0064 a0003c0007t0038g0063 a0004c0002t0006g0039 a0004c0002t0026g0011 a0004c0008t0010g0036 a0005c0006t0015g0008 a0005c0006t0020g0052 a0005c0011t0001g0053 a0006c0009t0009g0061 a0006c0009t0010g0010 a0006c0010t0009g0054 a0008c0019t0017g0004 a0013c0016t0002g0059	24	64	0.3750	7	c.218 others(26): Show c.2189+6783_2189+6789dupTTTTTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NABP1_chr2_191673136_191691943	191674154	C C	CTAAAAAA CTAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG02630.hp2 others(5): Show HG01891.hp1 HG02559.hp1 HG02630.hp2 HG02895.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0002t0005	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0005g0009 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0005g0009 a0001c0001t0015g0043 a0001c0001t0015g0044 a0001c0002t0005g0009	8	394	0.0203	7	c.-44 others(18): Show c.-4461_-4460insTAAAAAA	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3981		chr2	TogoVar
NADK2_chr5_36187589_36246925	36217662	G G	GTTAATCA GTTAATCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(299): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0004c0008 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0002t0007 a0001c0002t0009 a0001c0002t0017 a0001c0002t0030 a0001c0002t0032 a0001c0003t0007 a0001c0006t0005 a0002c0004t0008 a0002c0004t0017 a0002c0004t0031 a0004c0008t0050 a0005c0007t0003	a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0001t0002g0007 others(229): Show a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0004g0005 a0001c0001t0004g0016 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0204 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0256 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0005g0002 a0001c0001t0005g0011 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0006g0277 a0001c0001t0006g0278 a0001c0001t0006g0279 a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0008g0012 a0001c0001t0008g0139 a0001c0001t0008g0140 a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0008g0143 a0001c0001t0008g0144 a0001c0001t0008g0145 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0123 a0001c0001t0010g0124 a0001c0001t0010g0125 a0001c0001t0010g0126 a0001c0001t0011g0235 a0001c0001t0011g0253 a0001c0001t0011g0258 a0001c0001t0011g0260 a0001c0001t0012g0006 a0001c0001t0012g0103 a0001c0001t0013g0010 a0001c0001t0013g0114 a0001c0001t0013g0116 a0001c0001t0014g0150 a0001c0001t0014g0157 a0001c0001t0014g0159 a0001c0001t0014g0175 a0001c0001t0014g0176 a0001c0001t0015g0019 a0001c0001t0015g0269 a0001c0001t0015g0270 a0001c0001t0016g0113 a0001c0001t0016g0115 a0001c0001t0016g0118 a0001c0001t0016g0121 a0001c0001t0017g0122 a0001c0001t0018g0199 a0001c0001t0018g0224 a0001c0001t0018g0229 a0001c0001t0018g0265 a0001c0001t0019g0245 a0001c0001t0019g0248 a0001c0001t0019g0255 a0001c0001t0019g0257 a0001c0001t0020g0049 a0001c0001t0020g0283 a0001c0001t0020g0284 a0001c0001t0023g0128 a0001c0001t0023g0129 a0001c0001t0023g0130 a0001c0001t0024g0211 a0001c0001t0024g0220 a0001c0001t0024g0230 a0001c0001t0027g0032 a0001c0001t0028g0132 a0001c0001t0028g0133 a0001c0001t0034g0127 a0001c0001t0035g0147 a0001c0001t0036g0146 a0001c0001t0037g0177 a0001c0001t0038g0148 a0001c0001t0039g0178 a0001c0001t0040g0182 a0001c0001t0041g0158 a0001c0001t0043g0218 a0001c0001t0044g0202 a0001c0001t0045g0225 a0001c0001t0046g0213 a0001c0001t0047g0228 a0001c0001t0048g0208 a0001c0001t0049g0227 a0001c0001t0051g0232 a0001c0001t0052g0274 a0001c0002t0007g0021 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0009g0020 a0001c0002t0009g0051 a0001c0002t0009g0052 a0001c0002t0009g0053 a0001c0002t0009g0054 a0001c0002t0009g0055 a0001c0002t0009g0056 a0001c0002t0009g0058 a0001c0002t0009g0059 a0001c0002t0009g0060 a0001c0002t0009g0061 a0001c0002t0017g0105 a0001c0002t0017g0106 a0001c0002t0030g0057 a0001c0002t0032g0104 a0001c0003t0007g0009 a0001c0003t0007g0031 a0001c0003t0007g0098 a0001c0003t0007g0100 a0001c0003t0007g0101 a0001c0003t0007g0102 a0001c0006t0005g0117 a0002c0004t0008g0134 a0002c0004t0008g0136 a0002c0004t0008g0137 a0002c0004t0017g0135 a0002c0004t0031g0138 a0004c0008t0050g0241 a0005c0007t0003g0231	302	384	0.7865	7	c.781 others(20): Show c.781+85_781+86insTGATTAA	NADK2	ENSG00000152620.13	transcript	ENST00000381937.9	protein_coding	6/11			chr5	TogoVar
NAE1_chr16_66797878_66835976	66814608	A A	AAAAATAC AAAAATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01175.hp1 HG02165.hp1 others(11): Show HG00673.hp1 HG01175.hp1 HG02165.hp1 NA18948.hp2 NA18959.hp1 NA18960.hp1 NA18967.hp2 NA18973.hp2 NA18979.hp1 NA19003.hp2 NA19011.hp1 NA19012.hp1 NA19087.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0147 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0147 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0208	14	376	0.0372	7	c.841 others(22): Show c.841-763_841-762insGTATTTT	NAE1	ENSG00000159593.15	transcript	ENST00000290810.8	protein_coding	11/19			chr16	TogoVar
NAGLU_chr17_42531241_42549449	42547657	T T	TATGCGAG TATGCGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02258.hp1 HG01884.hp1 HG02055.hp2 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0002 a0002c0002t0001g0005	3	422	0.0071	7	c.34 others(18): Show c.3419_*3420insATGCGAG	NAGLU	ENSG00000108784.10	transcript	ENST00000225927.7	protein_coding		3209		chr17	TogoVar
NAIP_chr5_70963166_71030339	70963878	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01071.hp1 others(5): Show HG00099.hp2 HG00280.hp1 HG01071.hp1 HG01433.hp1 HG01891.hp2 HG06807.hp1 NA18906.hp2 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0004 a0009c0016 a0001c0001 a0001c0004 a0009c0016	a0001c0001t0001 a0001c0004t0002 a0001c0004t0011 others(1): Show a0001c0001t0001 a0001c0004t0002 a0001c0004t0011 a0009c0016t0002	a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0004t0002g0125 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0004t0002g0125 a0001c0004t0002g0131 a0001c0004t0002g0134 a0001c0004t0011g0139 a0001c0004t0011g0140 a0009c0016t0002g0137	8	141	0.0567	7	c.62 others(18): Show c.6225_*6226insAAAAAAA	NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding		4287		chr5	TogoVar
NAIP_chr5_70963166_71030339	70982622	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG02559.hp2 others(7): Show HG01891.hp1 HG02486.hp2 HG02559.hp2 HG02723.hp2 HG03139.hp2 HG03195.hp1 HG03516.hp2 HG03579.hp2 NA18747.hp1 NA19043.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0002 a0006c0013 others(1): Show a0001c0001 a0002c0002 a0006c0013 a0007c0012	a0001c0001t0001 a0002c0002t0007 a0002c0002t0009 others(5): Show a0001c0001t0001 a0002c0002t0007 a0002c0002t0009 a0002c0002t0014 a0002c0002t0029 a0002c0002t0030 a0006c0013t0008 a0007c0012t0009	a0001c0001t0001g0075 a0001c0001t0001g0104 a0002c0002t0007g0113 others(7): Show a0001c0001t0001g0075 a0001c0001t0001g0104 a0002c0002t0007g0113 a0002c0002t0007g0116 a0002c0002t0009g0128 a0002c0002t0014g0003 a0002c0002t0029g0124 a0002c0002t0030g0127 a0006c0013t0008g0120 a0007c0012t0009g0130	10	141	0.0709	7	c.327 others(26): Show c.3274+1146_3274+1152dupAAAAAAA	NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	12/16			chr5	TogoVar
NAIP_chr5_70963166_71030339	70996792	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp1 others(57): Show HG00099.hp1 HG00280.hp2 HG00544.hp1 HG00741.hp2 HG01071.hp2 HG01106.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02735.hp1 HG03139.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18991.hp1 NA19004.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19077.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0001c0014 a0002c0002 a0003c0005 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0004t0005 a0001c0004t0016 a0001c0004t0024 a0001c0006t0001 a0001c0010t0015 a0001c0014t0001 a0002c0002t0001 a0002c0002t0021 a0003c0005t0001 a0008c0009t0003	a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 others(57): Show a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0002g0136 a0001c0001t0003g0108 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0010g0001 a0001c0001t0010g0002 a0001c0004t0005g0016 a0001c0004t0005g0017 a0001c0004t0016g0011 a0001c0004t0024g0070 a0001c0006t0001g0067 a0001c0006t0001g0069 a0001c0010t0015g0007 a0001c0014t0001g0025 a0002c0002t0001g0019 a0002c0002t0001g0053 a0002c0002t0001g0076 a0002c0002t0021g0063 a0003c0005t0001g0042 a0003c0005t0001g0046 a0008c0009t0003g0111	60	141	0.4255	7	c.102 others(26): Show c.1022+1925_1022+1931dupTTTTTTT	NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	9/16			chr5	TogoVar
NALCN_chr13_101048776_101421508	101060275	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp2 HG01175.hp1 others(19): Show HG00280.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG02040.hp2 HG02132.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03540.hp1 HG03579.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0023 a0001c0025 a0002c0030	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0020 a0001c0002t0002 a0001c0006t0004 a0001c0009t0004 a0001c0023t0004 a0001c0025t0004 a0002c0030t0001	a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0040 others(19): Show a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0175 a0001c0001t0004g0008 a0001c0001t0004g0050 a0001c0001t0004g0087 a0001c0001t0015g0125 a0001c0001t0020g0176 a0001c0002t0002g0002 a0001c0002t0002g0036 a0001c0002t0002g0048 a0001c0002t0002g0147 a0001c0006t0004g0174 a0001c0009t0004g0046 a0001c0009t0004g0096 a0001c0009t0004g0097 a0001c0023t0004g0052 a0001c0025t0004g0027 a0002c0030t0001g0169	22	176	0.1250	7	c.475 others(24): Show c.4756-315_4756-309dupAAAAAAA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	41/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101070063	G G	GTTCTTTT GTTCTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG01175.hp2 others(29): Show HG00735.hp1 HG01175.hp1 HG01175.hp2 HG01358.hp2 HG01884.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG03098.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG06807.hp1 NA18906.hp2 NA18943.hp1 NA18950.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18983.hp2 NA19066.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0001c0017 a0001c0018 a0001c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0004t0001 a0001c0004t0007 a0001c0004t0009 a0001c0005t0003 a0001c0006t0005 a0001c0006t0008 a0001c0010t0007 a0001c0012t0008 a0001c0017t0010 a0001c0018t0003 a0001c0027t0009	a0001c0001t0001g0175 a0001c0001t0002g0054 a0001c0001t0002g0171 others(29): Show a0001c0001t0001g0175 a0001c0001t0002g0054 a0001c0001t0002g0171 a0001c0001t0003g0164 a0001c0001t0004g0023 a0001c0001t0004g0050 a0001c0001t0005g0101 a0001c0001t0006g0032 a0001c0001t0006g0056 a0001c0001t0006g0109 a0001c0001t0006g0118 a0001c0001t0006g0121 a0001c0001t0006g0132 a0001c0001t0008g0012 a0001c0001t0008g0017 a0001c0001t0010g0019 a0001c0001t0020g0176 a0001c0004t0001g0031 a0001c0004t0001g0075 a0001c0004t0001g0136 a0001c0004t0007g0163 a0001c0004t0009g0061 a0001c0004t0009g0157 a0001c0005t0003g0013 a0001c0006t0005g0115 a0001c0006t0008g0047 a0001c0010t0007g0004 a0001c0010t0007g0167 a0001c0012t0008g0095 a0001c0017t0010g0043 a0001c0018t0003g0014 a0001c0027t0009g0078	32	176	0.1818	7	c.419 others(26): Show c.4198-1237_4198-1236insAAAAGAA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	37/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101070063	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01099.hp1 others(12): Show HG00639.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01517.hp1 HG01993.hp1 HG02027.hp1 HG02129.hp1 HG02135.hp2 HG03516.hp2 HG04204.hp2 NA18941.hp2 NA18995.hp2 NA19003.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0008 others(3): Show a0001c0002 a0001c0007 a0001c0008 a0001c0013 a0001c0015 a0001c0022	a0001c0002t0002 a0001c0002t0019 a0001c0007t0002 others(4): Show a0001c0002t0002 a0001c0002t0019 a0001c0007t0002 a0001c0008t0016 a0001c0013t0012 a0001c0015t0002 a0001c0022t0002	a0001c0002t0002g0002 a0001c0002t0002g0053 a0001c0002t0002g0103 others(12): Show a0001c0002t0002g0002 a0001c0002t0002g0053 a0001c0002t0002g0103 a0001c0002t0002g0122 a0001c0002t0002g0141 a0001c0002t0002g0152 a0001c0002t0019g0135 a0001c0007t0002g0067 a0001c0007t0002g0071 a0001c0007t0002g0074 a0001c0007t0002g0129 a0001c0008t0016g0116 a0001c0013t0012g0062 a0001c0015t0002g0080 a0001c0022t0002g0055	15	176	0.0852	7	c.419 others(26): Show c.4198-1243_4198-1237dupAAAAAAA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	37/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101228169	A A	AAATTCTT AAATTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01070.hp1 others(34): Show HG00280.hp1 HG00738.hp2 HG01070.hp1 HG01358.hp1 HG01496.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG04184.hp1 NA18906.hp2 NA18941.hp2 NA18959.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA19003.hp1 NA19066.hp2 NA19082.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0006c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0002t0002 a0001c0002t0019 a0001c0003t0001 a0001c0010t0007 a0006c0028t0002	a0001c0001t0001g0018 a0001c0001t0001g0066 a0001c0001t0001g0070 others(34): Show a0001c0001t0001g0018 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0145 a0001c0001t0001g0175 a0001c0001t0003g0020 a0001c0001t0003g0042 a0001c0001t0008g0012 a0001c0001t0008g0017 a0001c0001t0010g0019 a0001c0001t0015g0125 a0001c0001t0018g0009 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0086 a0001c0002t0002g0123 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0143 a0001c0002t0002g0152 a0001c0002t0002g0173 a0001c0002t0019g0135 a0001c0003t0001g0033 a0001c0003t0001g0041 a0001c0003t0001g0044 a0001c0003t0001g0051 a0001c0003t0001g0102 a0001c0003t0001g0124 a0001c0003t0001g0130 a0001c0003t0001g0134 a0001c0003t0001g0144 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0010t0007g0004 a0006c0028t0002g0045	37	176	0.2102	7	c.162 others(26): Show c.1626+1223_1626+1224insAAGAATT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	13/43			chr13	TogoVar
NALF1_chr13_107158510_107872496	107298351	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02922.hp1 HG02976.hp1 others(4): Show HG00738.hp1 HG02922.hp1 HG02976.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0010 a0001c0001t0025 a0001c0001t0065 others(4): Show a0001c0001t0010 a0001c0001t0025 a0001c0001t0065 a0001c0001t0084 a0001c0001t0094 a0001c0002t0044 a0003c0004t0016	a0001c0001t0010g0035 a0001c0001t0025g0005 a0001c0001t0065g0025 others(4): Show a0001c0001t0010g0035 a0001c0001t0025g0005 a0001c0001t0065g0025 a0001c0001t0084g0110 a0001c0001t0094g0091 a0001c0002t0044g0079 a0003c0004t0016g0111	7	128	0.0547	7	c.916 others(26): Show c.916-87603_916-87597dupTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107438827	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02622.hp1 HG03041.hp2 others(2): Show HG02155.hp2 HG02622.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0055 a0001c0001t0075 a0001c0002t0012 others(2): Show a0001c0001t0055 a0001c0001t0075 a0001c0002t0012 a0001c0002t0044 a0001c0002t0046	a0001c0001t0055g0067 a0001c0001t0075g0096 a0001c0002t0012g0085 others(2): Show a0001c0001t0055g0067 a0001c0001t0075g0096 a0001c0002t0012g0085 a0001c0002t0044g0079 a0001c0002t0046g0081	5	128	0.0391	7	c.916 others(28): Show c.916-228079_916-228073dupTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107586635	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02056.hp2 HG02132.hp2 others(8): Show HG00408.hp1 HG02056.hp2 HG02132.hp2 HG03209.hp1 HG04228.hp2 NA18747.hp2 NA18967.hp2 NA18969.hp1 NA19002.hp1 NA19002.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 others(8): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0055 a0001c0001t0056 a0002c0003t0003	a0001c0001t0007g0103 a0001c0001t0008g0109 a0001c0001t0011g0043 others(8): Show a0001c0001t0007g0103 a0001c0001t0008g0109 a0001c0001t0011g0043 a0001c0001t0012g0023 a0001c0001t0019g0003 a0001c0001t0039g0052 a0001c0001t0042g0044 a0001c0001t0043g0054 a0001c0001t0055g0067 a0001c0001t0056g0062 a0002c0003t0003g0124	11	128	0.0859	7	c.915 others(28): Show c.915+279040_915+279046dupAAAAAAA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF2_chrX_69499326_69537508	69504985	A A	ACCGACCT ACCGACCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0018 a0018	a0018c0008 a0018c0008	a0018c0008t0034 a0018c0008t0034	a0018c0008t0034g0150 a0018c0008t0034g0150	1	322	0.0031	7	c.-29 others(16): Show c.-295_-294insACCTCCG	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	294	INFO_REALIGN_3_PRIME	chrX	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01258.hp2 HG01358.hp2 others(13): Show HG01175.hp2 HG01258.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG02132.hp1 HG02630.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp1 NA18612.hp2 NA18970.hp2 NA18983.hp1 NA19060.hp2 NA19062.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0025 a0001c0002t0002 a0001c0001t0001 a0001c0001t0025 a0001c0002t0002	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0065 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0106 a0001c0001t0001g0136 a0001c0001t0001g0164 a0001c0001t0025g0067 a0001c0002t0002g0011 a0001c0002t0002g0214 a0001c0002t0002g0240 a0001c0002t0002g0260	16	336	0.0476	7	c.743 others(22): Show c.743+617_743+623dupTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NAMPT_chr7_106243298_106289983	106284496	G G	GCCCAAGC GCCCAAGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02615.hp2 others(3): Show HG02109.hp2 HG02258.hp1 HG02615.hp2 HG02622.hp1 NA18997.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 others(3): Show a0001c0001t0001g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274	6	336	0.0179	7	c.57+ others(20): Show c.57+325_57+331dupGCTTGGG	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	1/10			chr7	TogoVar
NANOS3_chr19_13872134_13885757	13883872	T T	TGGTGGTG TGGTGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(152): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18994.hp2 NA18997.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0003 a0003c0004t0001 a0004c0006t0003	a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0030 others(22): Show a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0022 a0001c0002t0002g0023 a0002c0003t0001g0011 a0002c0003t0003g0004 a0003c0004t0001g0005 a0003c0004t0001g0012 a0003c0004t0001g0024 a0003c0004t0001g0034 a0003c0004t0001g0036 a0004c0006t0003g0004	155	380	0.4079	7	c.33 others(18): Show c.3369_*3370insGGTGGTG	NANOS3	ENSG00000187556.8	transcript	ENST00000339133.6	protein_coding		3116		chr19	TogoVar
NANS_chr9_98051732_98088077	98065483	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01515.hp1 HG01891.hp2 others(3): Show HG01256.hp2 HG01515.hp1 HG01891.hp2 HG02132.hp2 HG03688.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0143 others(3): Show a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0151 a0001c0003t0001g0156	6	318	0.0189	7	c.348 others(24): Show c.348+4507_348+4513dupTTTTTTT	NANS	ENSG00000095380.11	transcript	ENST00000210444.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
NAP1L4_chr11_2939437_2997329	2981418	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01081.hp1 HG01257.hp1 others(32): Show HG00438.hp2 HG01081.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01884.hp2 HG01975.hp2 HG02055.hp1 HG02132.hp2 HG02165.hp1 HG02293.hp1 HG02698.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 NA18939.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18964.hp1 NA18978.hp2 NA18989.hp1 NA18993.hp2 NA19001.hp1 NA19003.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19081.hp1 NA19086.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 others(24): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0151 a0001c0001t0012g0053	35	335	0.1045	7	c.-17 others(24): Show c.-17-2188_-17-2182dupTTTTTTT	NAP1L4	ENSG00000205531.14	transcript	ENST00000380542.9	protein_coding	1/15			chr11	TogoVar
NARS1_chr18_57595656_57626836	57607841	A A	AAATACAC AAATACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(27): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00738.hp1 HG01070.hp2 HG01081.hp1 HG01515.hp1 HG01517.hp2 HG02015.hp1 HG02040.hp2 HG02129.hp2 HG02135.hp1 HG02293.hp2 HG04204.hp1 NA18747.hp2 NA18944.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19058.hp2 NA19067.hp2 NA19083.hp1 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0026 a0001c0001t0004g0046 others(21): Show a0001c0001t0004g0013 a0001c0001t0004g0026 a0001c0001t0004g0046 a0001c0001t0004g0119 a0001c0001t0004g0146 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0222 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0230	30	420	0.0714	7	c.580 others(22): Show c.580-183_580-177dupGTGTATT	NARS1	ENSG00000134440.12	transcript	ENST00000256854.10	protein_coding	7/13			chr18	TogoVar
NARS2_chr11_78430968_78579864	78468310	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02717.hp1 others(3): Show HG01891.hp1 HG02615.hp1 HG02717.hp1 HG02895.hp1 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0005t0001 a0001c0003t0003 a0001c0005t0001	a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0005t0001g0069 others(3): Show a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0005t0001g0069 a0001c0005t0001g0144 a0001c0005t0001g0145 a0001c0005t0001g0146	6	294	0.0204	7	c.102 others(24): Show c.1026+930_1026+936dupTTTTTTT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	10/13			chr11	TogoVar
NARS2_chr11_78430968_78579864	78562031	T T	TCAAAAAA TCAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG03130.hp1 others(3): Show HG02055.hp2 HG02723.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 others(1): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0015	a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0004g0274 others(3): Show a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0004g0274 a0001c0003t0004g0275 a0001c0003t0006g0259 a0001c0003t0015g0266	6	294	0.0204	7	c.514 others(24): Show c.514-2419_514-2413dupTTTTTTG	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	4/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45586284	G G	GTGTGTGT GTGTGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19066.hp1 NA20129.hp2 NA19043.hp1 NA19066.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0296 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0296	3	300	0.0100	7	c.59+ others(22): Show c.59+2079_59+2080insTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14			chr1	TogoVar
NAT16_chr7_101165496_101185293	101178889	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp2 HG01192.hp2 others(37): Show HG00597.hp2 HG00642.hp2 HG01192.hp2 HG01258.hp2 HG02080.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02630.hp2 HG02723.hp2 HG02886.hp2 HG03017.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03834.hp1 HG03927.hp2 NA18522.hp2 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18955.hp2 NA18960.hp2 NA18963.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA19004.hp1 NA19065.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016	a0001c0001t0001g0052 a0001c0001t0001g0168 a0001c0001t0003g0007 others(19): Show a0001c0001t0001g0052 a0001c0001t0001g0168 a0001c0001t0003g0007 a0001c0001t0003g0018 a0001c0001t0003g0027 a0001c0001t0003g0034 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0077 a0001c0001t0004g0159 a0001c0001t0004g0164 a0001c0001t0004g0166 a0001c0001t0010g0167 a0001c0001t0011g0079 a0001c0001t0016g0125	40	422	0.0948	7	c.-5+ others(22): Show c.-5+1146_-5+1152dupTTTTTTT	NAT16	ENSG00000167011.9	transcript	ENST00000300303.7	protein_coding	1/3			chr7	TogoVar
NAT8L_chr4_2054327_2074089	2060625	T T	TCCTCCCC TCCTCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02055.hp2 HG02258.hp2 others(3): Show HG00408.hp1 HG02055.hp2 HG02258.hp2 HG02723.hp2 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0071 a0001c0002t0001 a0001c0001t0011 a0001c0001t0071 a0001c0002t0001	a0001c0001t0011g0008 a0001c0001t0071g0008 a0001c0002t0001g0034 a0001c0001t0011g0008 a0001c0001t0071g0008 a0001c0002t0001g0034	6	378	0.0159	7	c.377 others(22): Show c.377-357_377-351dupCTCCCCC	NAT8L	ENSG00000185818.8	transcript	ENST00000423729.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAV1_chr1_201534127_201831969	201562171	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02922.hp1 others(10): Show HG02109.hp1 HG02559.hp2 HG02922.hp1 HG02976.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03654.hp1 HG04204.hp2 NA19000.hp1 NA19000.hp2 NA19043.hp2 NA19057.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0009 a0001c0010 others(4): Show a0001c0001 a0001c0009 a0001c0010 a0003c0020 a0003c0030 a0004c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0028 a0001c0009t0022 a0001c0010t0066 a0001c0010t0092 a0003c0020t0090 a0003c0030t0006 a0004c0003t0038 a0005c0005t0014	a0001c0001t0001g0121 a0001c0001t0002g0049 a0001c0001t0002g0068 others(10): Show a0001c0001t0001g0121 a0001c0001t0002g0049 a0001c0001t0002g0068 a0001c0001t0003g0021 a0001c0001t0016g0190 a0001c0001t0028g0177 a0001c0009t0022g0174 a0001c0010t0066g0085 a0001c0010t0092g0173 a0003c0020t0090g0161 a0003c0030t0006g0207 a0004c0003t0038g0014 a0005c0005t0014g0131	13	210	0.0619	7	c.-14 others(28): Show c.-144+22840_-144+22846dupTTTTTTT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201642534	T T	TTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02970.hp1 HG02451.hp2 HG02896.hp1 HG02970.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0028 a0001c0001 a0017c0028	a0001c0001t0001 a0001c0001t0071 a0017c0028t0015 a0001c0001t0001 a0001c0001t0071 a0017c0028t0015	a0001c0001t0001g0140 a0001c0001t0071g0209 a0017c0028t0015g0208 a0001c0001t0001g0140 a0001c0001t0071g0209 a0017c0028t0015g0208	3	210	0.0143	7	c.827 others(24): Show c.827-6097_827-6091dupCTTTCTT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201768333	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01433.hp1 HG01993.hp2 others(27): Show HG01071.hp2 HG01433.hp1 HG01993.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp1	a0001 a0003 a0006 others(4): Show a0001 a0003 a0006 a0007 a0011 a0012 a0014	a0001c0001 a0001c0006 a0001c0009 others(14): Show a0001c0001 a0001c0006 a0001c0009 a0001c0010 a0001c0031 a0001c0036 a0003c0004 a0003c0020 a0003c0029 a0003c0030 a0003c0035 a0003c0037 a0006c0008 a0007c0017 a0011c0032 a0012c0022 a0014c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0030 a0001c0001t0052 a0001c0001t0056 a0001c0001t0084 a0001c0006t0021 a0001c0009t0089 a0001c0010t0066 a0001c0010t0092 a0001c0031t0051 a0001c0036t0076 a0003c0004t0006 a0003c0004t0026 a0003c0004t0041 a0003c0020t0090 a0003c0029t0006 a0003c0030t0006 a0003c0035t0006 a0003c0037t0061 a0006c0008t0057 a0007c0017t0027 a0011c0032t0024 a0012c0022t0031 a0014c0027t0004	a0001c0001t0001g0124 a0001c0001t0002g0005 a0001c0001t0004g0159 others(27): Show a0001c0001t0001g0124 a0001c0001t0002g0005 a0001c0001t0004g0159 a0001c0001t0016g0082 a0001c0001t0017g0113 a0001c0001t0020g0083 a0001c0001t0030g0126 a0001c0001t0052g0112 a0001c0001t0056g0078 a0001c0001t0084g0156 a0001c0006t0021g0130 a0001c0006t0021g0201 a0001c0009t0089g0199 a0001c0010t0066g0085 a0001c0010t0092g0173 a0001c0031t0051g0107 a0001c0036t0076g0206 a0003c0004t0006g0123 a0003c0004t0026g0187 a0003c0004t0041g0079 a0003c0020t0090g0161 a0003c0029t0006g0116 a0003c0030t0006g0207 a0003c0035t0006g0191 a0003c0037t0061g0104 a0006c0008t0057g0118 a0007c0017t0027g0106 a0011c0032t0024g0134 a0012c0022t0031g0197 a0014c0027t0004g0077	30	210	0.1429	7	c.208 others(28): Show c.2088-12078_2088-12072dupAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19785647	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp2 HG01256.hp1 others(3): Show HG00741.hp2 HG01168.hp2 HG01256.hp1 HG01515.hp1 HG03831.hp1 HG04115.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0029 a0002c0002 a0002c0013 others(2): Show a0001c0029 a0002c0002 a0002c0013 a0002c0118 a0007c0111	a0001c0029t0006 a0002c0002t0001 a0002c0002t0019 others(3): Show a0001c0029t0006 a0002c0002t0001 a0002c0002t0019 a0002c0013t0001 a0002c0118t0001 a0007c0111t0001	a0001c0029t0006g0104 a0002c0002t0001g0059 a0002c0002t0019g0099 others(3): Show a0001c0029t0006g0104 a0002c0002t0001g0059 a0002c0002t0019g0099 a0002c0013t0001g0144 a0002c0118t0001g0036 a0007c0111t0001g0074	6	166	0.0361	7	c.268 others(26): Show c.268-46831_268-46825dupTTTTTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19852769	C C	CAGGCCTA CAGGCCTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00558.hp1 others(68): Show HG00140.hp1 HG00438.hp2 HG00558.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02717.hp1 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18947.hp1 NA18947.hp2 NA18964.hp2 NA19043.hp2 NA19066.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0013 a0018 a0021 a0022	a0001c0003 a0001c0007 a0001c0028 others(61): Show a0001c0003 a0001c0007 a0001c0028 a0001c0029 a0001c0031 a0001c0033 a0001c0034 a0001c0036 a0001c0044 a0001c0052 a0001c0060 a0001c0068 a0001c0071 a0001c0074 a0001c0078 a0001c0081 a0001c0084 a0001c0086 a0001c0087 a0002c0002 a0002c0004 a0002c0013 a0002c0014 a0002c0015 a0002c0115 a0002c0116 a0002c0118 a0002c0119 a0002c0129 a0002c0130 a0002c0138 a0003c0005 a0003c0006 a0003c0027 a0003c0042 a0003c0043 a0003c0063 a0003c0064 a0003c0065 a0004c0001 a0004c0016 a0004c0017 a0004c0106 a0004c0121 a0004c0133 a0005c0026 a0005c0035 a0005c0061 a0005c0082 a0005c0143 a0006c0022 a0006c0023 a0007c0110 a0007c0111 a0007c0112 a0007c0114 a0009c0109 a0009c0113 a0011c0025 a0012c0085 a0013c0057 a0018c0132 a0021c0089 a0022c0141	a0001c0003t0023 a0001c0007t0007 a0001c0028t0030 others(65): Show a0001c0003t0023 a0001c0007t0007 a0001c0028t0030 a0001c0029t0006 a0001c0031t0001 a0001c0033t0004 a0001c0034t0041 a0001c0036t0046 a0001c0044t0003 a0001c0052t0007 a0001c0060t0016 a0001c0068t0038 a0001c0071t0007 a0001c0074t0001 a0001c0078t0001 a0001c0081t0012 a0001c0084t0005 a0001c0086t0001 a0001c0087t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0019 a0002c0004t0001 a0002c0013t0001 a0002c0014t0001 a0002c0015t0042 a0002c0115t0006 a0002c0116t0005 a0002c0118t0001 a0002c0119t0004 a0002c0129t0004 a0002c0130t0013 a0002c0138t0001 a0003c0005t0005 a0003c0006t0008 a0003c0006t0047 a0003c0027t0008 a0003c0042t0001 a0003c0043t0009 a0003c0063t0005 a0003c0064t0004 a0003c0065t0003 a0004c0001t0001 a0004c0016t0001 a0004c0017t0001 a0004c0017t0006 a0004c0106t0001 a0004c0121t0032 a0004c0133t0006 a0005c0026t0002 a0005c0035t0001 a0005c0061t0002 a0005c0082t0025 a0005c0143t0019 a0006c0022t0004 a0006c0023t0003 a0007c0110t0003 a0007c0111t0001 a0007c0112t0006 a0007c0114t0002 a0009c0109t0004 a0009c0113t0001 a0011c0025t0002 a0012c0085t0017 a0013c0057t0008 a0018c0132t0014 a0021c0089t0043 a0022c0141t0031	a0001c0003t0023g0132 a0001c0007t0007g0088 a0001c0028t0030g0073 others(68): Show a0001c0003t0023g0132 a0001c0007t0007g0088 a0001c0028t0030g0073 a0001c0029t0006g0104 a0001c0031t0001g0082 a0001c0033t0004g0058 a0001c0034t0041g0112 a0001c0036t0046g0123 a0001c0044t0003g0005 a0001c0052t0007g0134 a0001c0060t0016g0119 a0001c0068t0038g0004 a0001c0071t0007g0011 a0001c0074t0001g0042 a0001c0078t0001g0122 a0001c0081t0012g0164 a0001c0084t0005g0075 a0001c0086t0001g0148 a0001c0087t0001g0034 a0002c0002t0001g0059 a0002c0002t0004g0029 a0002c0002t0019g0099 a0002c0004t0001g0040 a0002c0013t0001g0144 a0002c0013t0001g0145 a0002c0014t0001g0033 a0002c0014t0001g0062 a0002c0015t0042g0037 a0002c0115t0006g0102 a0002c0116t0005g0136 a0002c0118t0001g0036 a0002c0119t0004g0103 a0002c0129t0004g0030 a0002c0130t0013g0149 a0002c0138t0001g0035 a0003c0005t0005g0128 a0003c0005t0005g0131 a0003c0006t0008g0159 a0003c0006t0047g0002 a0003c0027t0008g0158 a0003c0042t0001g0161 a0003c0043t0009g0147 a0003c0063t0005g0006 a0003c0064t0004g0016 a0003c0065t0003g0080 a0004c0001t0001g0060 a0004c0016t0001g0021 a0004c0017t0001g0051 a0004c0017t0006g0026 a0004c0106t0001g0143 a0004c0121t0032g0041 a0004c0133t0006g0024 a0005c0026t0002g0120 a0005c0035t0001g0038 a0005c0061t0002g0048 a0005c0082t0025g0084 a0005c0143t0019g0114 a0006c0022t0004g0124 a0006c0023t0003g0027 a0007c0110t0003g0045 a0007c0111t0001g0074 a0007c0112t0006g0071 a0007c0114t0002g0105 a0009c0109t0004g0039 a0009c0113t0001g0061 a0011c0025t0002g0115 a0012c0085t0017g0090 a0013c0057t0008g0093 a0018c0132t0014g0022 a0021c0089t0043g0020 a0022c0141t0031g0166	71	166	0.4277	7	c.438 others(24): Show c.438+9847_438+9853dupAGGCCTA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20005254	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03225.hp2 HG03516.hp2 others(1): Show HG02970.hp2 HG03225.hp2 HG03516.hp2 NA20129.hp2	a0001 a0013 a0001 a0013	a0001c0007 a0001c0050 a0001c0068 others(1): Show a0001c0007 a0001c0050 a0001c0068 a0013c0057	a0001c0007t0007 a0001c0050t0035 a0001c0068t0038 others(1): Show a0001c0007t0007 a0001c0050t0035 a0001c0068t0038 a0013c0057t0008	a0001c0007t0007g0088 a0001c0050t0035g0151 a0001c0068t0038g0004 others(1): Show a0001c0007t0007g0088 a0001c0050t0035g0151 a0001c0068t0038g0004 a0013c0057t0008g0093	4	166	0.0241	7	c.276 others(28): Show c.2768+21007_2768+21008insATATATA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	11/37			chr11	TogoVar
NAV3_chr12_77825894_78218010	78162869	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02293.hp2 HG03831.hp1 HG01192.hp1 HG02293.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0071 a0001c0008t0004 a0001c0001t0001 a0001c0001t0071 a0001c0008t0004	a0001c0001t0001g0126 a0001c0001t0071g0131 a0001c0008t0004g0082 a0001c0001t0001g0126 a0001c0001t0071g0131 a0001c0008t0004g0082	3	186	0.0161	7	c.486 others(26): Show c.4869+3583_4869+3584insTATATAT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	23/39			chr12	TogoVar
NBAS_chr2_15161916_15566334	15381273	C C	CTTTCAAA CTTTCAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(121): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18960.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0020 a0021 a0026 a0027 a0028 a0029 a0030 a0031 a0033 a0034 a0035 a0036 a0037 a0038	a0001c0003 a0001c0023 a0002c0002 others(34): Show a0001c0003 a0001c0023 a0002c0002 a0002c0009 a0003c0010 a0003c0011 a0003c0021 a0005c0006 a0005c0051 a0006c0008 a0007c0007 a0008c0014 a0008c0019 a0009c0013 a0010c0028 a0011c0012 a0012c0027 a0013c0015 a0014c0045 a0014c0047 a0015c0016 a0017c0052 a0018c0018 a0020c0041 a0021c0020 a0026c0022 a0027c0029 a0028c0026 a0029c0025 a0030c0024 a0031c0031 a0033c0042 a0034c0048 a0035c0046 a0036c0043 a0037c0044 a0038c0049	a0001c0003t0001 a0001c0023t0001 a0002c0002t0001 others(34): Show a0001c0003t0001 a0001c0023t0001 a0002c0002t0001 a0002c0009t0001 a0003c0010t0001 a0003c0011t0001 a0003c0021t0001 a0005c0006t0001 a0005c0051t0001 a0006c0008t0001 a0007c0007t0001 a0008c0014t0001 a0008c0019t0001 a0009c0013t0001 a0010c0028t0001 a0011c0012t0001 a0012c0027t0001 a0013c0015t0001 a0014c0045t0001 a0014c0047t0001 a0015c0016t0001 a0017c0052t0001 a0018c0018t0001 a0020c0041t0001 a0021c0020t0001 a0026c0022t0001 a0027c0029t0001 a0028c0026t0001 a0029c0025t0001 a0030c0024t0001 a0031c0031t0001 a0033c0042t0001 a0034c0048t0001 a0035c0046t0001 a0036c0043t0001 a0037c0044t0001 a0038c0049t0001	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 others(121): Show a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0030 a0001c0003t0001g0033 a0001c0003t0001g0039 a0001c0023t0001g0007 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0009t0001g0160 a0002c0009t0001g0165 a0002c0009t0001g0191 a0002c0009t0001g0193 a0003c0010t0001g0048 a0003c0011t0001g0022 a0003c0011t0001g0034 a0003c0021t0001g0009 a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 a0005c0006t0001g0140 a0005c0006t0001g0141 a0005c0006t0001g0142 a0005c0051t0001g0137 a0006c0008t0001g0016 a0006c0008t0001g0017 a0006c0008t0001g0144 a0006c0008t0001g0222 a0007c0007t0001g0156 a0007c0007t0001g0217 a0007c0007t0001g0218 a0007c0007t0001g0220 a0008c0014t0001g0133 a0008c0014t0001g0134 a0008c0019t0001g0004 a0009c0013t0001g0131 a0009c0013t0001g0132 a0010c0028t0001g0010 a0011c0012t0001g0032 a0011c0012t0001g0143 a0012c0027t0001g0026 a0013c0015t0001g0002 a0013c0015t0001g0223 a0014c0045t0001g0183 a0014c0047t0001g0200 a0015c0016t0001g0177 a0015c0016t0001g0201 a0017c0052t0001g0135 a0018c0018t0001g0153 a0020c0041t0001g0027 a0021c0020t0001g0005 a0026c0022t0001g0008 a0027c0029t0001g0031 a0028c0026t0001g0021 a0029c0025t0001g0003 a0030c0024t0001g0028 a0031c0031t0001g0029 a0033c0042t0001g0176 a0034c0048t0001g0194 a0035c0046t0001g0188 a0036c0043t0001g0221 a0037c0044t0001g0159 a0038c0049t0001g0148	124	224	0.5536	7	c.336 others(26): Show c.3361-1443_3361-1442insTTTGAAA	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	29/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15559062	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp2 others(38): Show HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01255.hp1 HG01256.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp2 HG02132.hp2 HG02273.hp1 HG02280.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp2 HG03041.hp2 HG03704.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18948.hp2 NA18960.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18984.hp1 NA18992.hp1 NA18999.hp1 NA19005.hp1 NA19054.hp2 NA19064.hp2 NA19077.hp2 NA19081.hp2 NA20300.hp2 NA21309.hp2	a0002 a0007 a0014 others(5): Show a0002 a0007 a0014 a0015 a0018 a0033 a0035 a0037	a0002c0002 a0002c0009 a0007c0007 others(6): Show a0002c0002 a0002c0009 a0007c0007 a0014c0045 a0015c0016 a0018c0018 a0033c0042 a0035c0046 a0037c0044	a0002c0002t0001 a0002c0009t0001 a0007c0007t0001 others(6): Show a0002c0002t0001 a0002c0009t0001 a0007c0007t0001 a0014c0045t0001 a0015c0016t0001 a0018c0018t0001 a0033c0042t0001 a0035c0046t0001 a0037c0044t0001	a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 others(38): Show a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0009t0001g0160 a0002c0009t0001g0165 a0007c0007t0001g0156 a0014c0045t0001g0183 a0015c0016t0001g0177 a0018c0018t0001g0153 a0033c0042t0001g0176 a0035c0046t0001g0188 a0037c0044t0001g0159	41	224	0.1830	7	c.118 others(22): Show c.118-435_118-429dupTTTTTTT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	1/51			chr2	TogoVar
NBDY_chrX_56724243_56824179	56730513	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(24): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG01109.hp1 HG01175.hp1 HG01943.hp1 HG02056.hp1 HG02083.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02818.hp2 HG03669.hp1 HG04199.hp1 NA18747.hp1 NA18947.hp2 NA18955.hp1 NA18967.hp1 NA18970.hp1 NA18988.hp1 NA18990.hp1 NA19002.hp2 NA19043.hp1 NA19075.hp1 NA19079.hp1 NA19085.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0074 others(24): Show a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0002g0002 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0159 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0007g0061 a0001c0001t0007g0064	27	160	0.1688	7	c.29 others(22): Show c.29+951_*29+957dupAAAAAAA	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
NBDY_chrX_56724243_56824179	56764702	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	160	0.0063	7	c.16 others(28): Show c.166+32517_*166+32523dupAAAAAAA	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
NBEAL1_chr2_203009875_203230194	203119424	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00642.hp2 others(16): Show HG00423.hp1 HG00544.hp1 HG00642.hp2 HG01175.hp2 HG02056.hp1 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02622.hp1 HG03688.hp2 HG03942.hp1 NA18945.hp2 NA18965.hp1 NA18991.hp2 NA18995.hp2 NA18999.hp2 NA19062.hp2 NA19077.hp2 NA19078.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0001c0019 others(2): Show a0001c0001 a0001c0007 a0001c0019 a0002c0002 a0004c0005	a0001c0001t0002 a0001c0001t0016 a0001c0007t0002 others(4): Show a0001c0001t0002 a0001c0001t0016 a0001c0007t0002 a0001c0019t0030 a0002c0002t0003 a0004c0005t0002 a0004c0005t0009	a0001c0001t0002g0103 a0001c0001t0002g0113 a0001c0001t0002g0117 others(16): Show a0001c0001t0002g0103 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0184 a0001c0001t0016g0161 a0001c0007t0002g0059 a0001c0007t0002g0092 a0001c0019t0030g0180 a0002c0002t0003g0048 a0004c0005t0002g0174 a0004c0005t0009g0170	19	292	0.0651	7	c.259 others(26): Show c.2593-2816_2593-2810dupTTTTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	18/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203139557	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02083.hp2 HG02135.hp1 others(6): Show HG00408.hp2 HG02083.hp2 HG02135.hp1 HG02293.hp2 HG03579.hp2 HG03831.hp2 HG03942.hp2 NA18995.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0001t0029 a0001c0001t0040 others(1): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0040 a0001c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0252 a0001c0001t0029g0236 a0001c0001t0040g0012 a0001c0024t0001g0005	9	292	0.0308	7	c.484 others(24): Show c.4848+832_4848+838dupTTTTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203141366	A A	ATTATTAT ATTATTAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show HG00438.hp1 HG00735.hp1 HG00738.hp2 HG01099.hp1 HG01167.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02486.hp2 HG03491.hp1 NA18980.hp2 NA20752.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0006 a0001c0001 a0001c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0004t0005 a0001c0004t0048 a0005c0006t0002	a0001c0001t0001g0235 a0001c0001t0002g0108 a0001c0001t0005g0283 others(10): Show a0001c0001t0001g0235 a0001c0001t0002g0108 a0001c0001t0005g0283 a0001c0001t0014g0260 a0001c0004t0005g0274 a0001c0004t0005g0275 a0001c0004t0005g0276 a0001c0004t0005g0278 a0001c0004t0005g0281 a0001c0004t0005g0282 a0001c0004t0005g0284 a0001c0004t0048g0285 a0005c0006t0002g0179	13	292	0.0445	7	c.484 others(26): Show c.4848+2620_4848+2621insATTATTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEA_chr13_34937270_35677736	34958520	T T	TTTAAAAA TTTAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02735.hp2 HG04184.hp1 others(1): Show HG00642.hp1 HG02735.hp2 HG04184.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0003t0018 a0001c0001t0001 a0001c0003t0008 a0001c0003t0018	a0001c0001t0001g0106 a0001c0003t0008g0007 a0001c0003t0008g0008 others(1): Show a0001c0001t0001g0106 a0001c0003t0008g0007 a0001c0003t0008g0008 a0001c0003t0018g0006	4	122	0.0328	7	c.294 others(26): Show c.294+15407_294+15408insTAAAAAT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35357181	A A	AAAATATT AAAATATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00544.hp1 others(59): Show HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18960.hp2 NA18971.hp1 NA18979.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0012 a0001c0014 a0001c0017 a0002c0004 a0002c0019 a0002c0020 a0002c0021 a0003c0007 a0003c0011 a0003c0026 a0004c0008 a0007c0023 a0008c0015 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0002t0001 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0005t0004 a0001c0006t0001 a0001c0006t0019 a0001c0012t0001 a0001c0014t0001 a0001c0017t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0019t0001 a0002c0020t0001 a0002c0021t0010 a0003c0007t0001 a0003c0007t0005 a0003c0011t0003 a0003c0026t0001 a0004c0008t0001 a0007c0023t0004 a0008c0015t0017 a0009c0018t0001	a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0065 others(59): Show a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0118 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0104 a0001c0001t0003g0078 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0004g0035 a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0004g0116 a0001c0001t0005g0063 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0007g0025 a0001c0001t0007g0034 a0001c0001t0007g0036 a0001c0001t0007g0094 a0001c0001t0007g0117 a0001c0001t0010g0029 a0001c0001t0012g0032 a0001c0001t0015g0110 a0001c0001t0020g0090 a0001c0002t0001g0101 a0001c0002t0001g0115 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0005g0009 a0001c0003t0008g0007 a0001c0003t0008g0008 a0001c0005t0004g0013 a0001c0005t0004g0014 a0001c0006t0001g0081 a0001c0006t0019g0038 a0001c0012t0001g0103 a0001c0014t0001g0120 a0001c0017t0002g0108 a0002c0004t0001g0024 a0002c0004t0002g0044 a0002c0004t0003g0018 a0002c0019t0001g0059 a0002c0020t0001g0021 a0002c0021t0010g0022 a0003c0007t0001g0028 a0003c0007t0005g0027 a0003c0011t0003g0026 a0003c0026t0001g0119 a0004c0008t0001g0121 a0004c0008t0001g0122 a0007c0023t0004g0016 a0008c0015t0017g0112 a0009c0018t0001g0001	62	122	0.5082	7	c.617 others(26): Show c.6179+4858_6179+4859insAAATATT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	38/58			chr13	TogoVar
NBEA_chr13_34937270_35677736	35539915	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02965.hp2 NA18960.hp1 others(4): Show HG02615.hp2 HG02965.hp2 NA18960.hp1 NA18979.hp1 NA19004.hp1 NA19007.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0025 a0001c0001 a0001c0002 a0001c0025	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 a0001c0025t0001	a0001c0001t0001g0053 a0001c0001t0001g0096 a0001c0001t0003g0078 others(4): Show a0001c0001t0001g0053 a0001c0001t0001g0096 a0001c0001t0003g0078 a0001c0001t0005g0086 a0001c0001t0011g0070 a0001c0002t0001g0075 a0001c0025t0001g0080	7	122	0.0574	7	c.658 others(28): Show c.6586-10541_6586-10535dupAAAAAAA	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	41/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBPF10_chr1_146059711_146149804	146132913	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00639.hp2 others(43): Show HG00140.hp2 HG00558.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01258.hp1 HG01934.hp2 HG02040.hp1 HG02056.hp2 HG02109.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02486.hp1 HG02647.hp1 HG02683.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03209.hp1 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG03834.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18966.hp1 NA18966.hp2 NA18984.hp2 NA18994.hp2 NA18999.hp1 NA19030.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp2	a0004 a0007 a0013 others(39): Show a0004 a0007 a0013 a0019 a0029 a0030 a0031 a0032 a0034 a0035 a0036 a0045 a0046 a0047 a0079 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0134 a0138 a0139 a0142 a0148 a0149 a0150 a0152 a0153 a0158 a0159 a0161 a0162 a0163 a0164 a0167 a0169 a0170 a0171 a0214	a0004c0004 a0007c0023 a0013c0171 others(41): Show a0004c0004 a0007c0023 a0013c0171 a0013c0172 a0013c0177 a0019c0064 a0029c0020 a0030c0025 a0031c0185 a0032c0024 a0034c0181 a0035c0021 a0036c0026 a0045c0041 a0046c0040 a0047c0039 a0079c0230 a0087c0098 a0088c0150 a0089c0099 a0090c0097 a0091c0100 a0092c0101 a0093c0102 a0134c0143 a0138c0149 a0139c0147 a0142c0190 a0148c0182 a0149c0187 a0150c0162 a0152c0174 a0153c0169 a0158c0176 a0159c0175 a0161c0180 a0162c0164 a0163c0161 a0164c0163 a0167c0158 a0169c0156 a0170c0155 a0171c0154 a0214c0229	a0004c0004t0003 a0007c0023t0003 a0013c0171t0008 others(41): Show a0004c0004t0003 a0007c0023t0003 a0013c0171t0008 a0013c0172t0003 a0013c0177t0003 a0019c0064t0020 a0029c0020t0001 a0030c0025t0003 a0031c0185t0016 a0032c0024t0003 a0034c0181t0008 a0035c0021t0003 a0036c0026t0003 a0045c0041t0001 a0046c0040t0001 a0047c0039t0001 a0079c0230t0003 a0087c0098t0006 a0088c0150t0006 a0089c0099t0006 a0090c0097t0006 a0091c0100t0006 a0092c0101t0006 a0093c0102t0006 a0134c0143t0017 a0138c0149t0001 a0139c0147t0001 a0142c0190t0003 a0148c0182t0009 a0149c0187t0003 a0150c0162t0003 a0152c0174t0003 a0153c0169t0003 a0158c0176t0003 a0159c0175t0003 a0161c0180t0003 a0162c0164t0003 a0163c0161t0003 a0164c0163t0003 a0167c0158t0003 a0169c0156t0003 a0170c0155t0003 a0171c0154t0015 a0214c0229t0003	a0004c0004t0003g0175 a0007c0023t0003g0185 a0013c0171t0008g0164 others(41): Show a0004c0004t0003g0175 a0007c0023t0003g0185 a0013c0171t0008g0164 a0013c0172t0003g0178 a0013c0177t0003g0189 a0019c0064t0020g0080 a0029c0020t0001g0005 a0030c0025t0003g0181 a0031c0185t0016g0183 a0032c0024t0003g0186 a0034c0181t0008g0216 a0035c0021t0003g0006 a0036c0026t0003g0182 a0045c0041t0001g0079 a0046c0040t0001g0078 a0047c0039t0001g0081 a0079c0230t0003g0276 a0087c0098t0006g0144 a0088c0150t0006g0143 a0089c0099t0006g0142 a0090c0097t0006g0141 a0091c0100t0006g0145 a0092c0101t0006g0146 a0093c0102t0006g0147 a0134c0143t0017g0149 a0138c0149t0001g0151 a0139c0147t0001g0150 a0142c0190t0003g0188 a0148c0182t0009g0174 a0149c0187t0003g0172 a0150c0162t0003g0163 a0152c0174t0003g0169 a0153c0169t0003g0187 a0158c0176t0003g0179 a0159c0175t0003g0177 a0161c0180t0003g0184 a0162c0164t0003g0170 a0163c0161t0003g0213 a0164c0163t0003g0173 a0167c0158t0003g0176 a0169c0156t0003g0208 a0170c0155t0003g0180 a0171c0154t0015g0171 a0214c0229t0003g0275	46	283	0.1625	7	c.158 others(24): Show c.1585+603_1585+609dupTTTTTTT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	10/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146132913	C C	CCAAAAAA CCAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03130.hp1 NA19030.hp2 HG01891.hp1 HG03130.hp1 NA19030.hp2	a0082 a0105 a0128 a0082 a0105 a0128	a0082c0093 a0105c0103 a0128c0136 a0082c0093 a0105c0103 a0128c0136	a0082c0093t0005 a0105c0103t0005 a0128c0136t0002 a0082c0093t0005 a0105c0103t0005 a0128c0136t0002	a0082c0093t0005g0162 a0105c0103t0005g0140 a0128c0136t0002g0113 a0082c0093t0005g0162 a0105c0103t0005g0140 a0128c0136t0002g0113	3	283	0.0106	7	c.158 others(24): Show c.1585+609_1585+610insTTTTTTG	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	10/89			chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)