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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Select column to sort.

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⚠️ 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
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(21): Show TTATATATATATATTTTTATATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0012 a0001c0019t0012	a0001c0019t0012g0120 a0001c0019t0012g0120	1	314	0.0032	28	c.478 others(47): Show c.4786-1644_4786-1643insTATATATATATAAAAATATATATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100681725	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0172 a0003c0004t0004g0172	1	314	0.0032	28	c.215 others(47): Show c.2152-1974_2152-1973insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41			chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTTCTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG04204.hp2 HG00738.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	354	0.0057	28	c.31 others(39): Show c.3126_*3127insTTCCTTCCTTCCTTTCTCTTTCTTTCTT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1928		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTTTCTTC others(21): Show CTTTCTTCCTTCCTTCCTTTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	354	0.0028	28	c.31 others(39): Show c.3126_*3127insTTTCTTCCTTCCTTCCTTTCTCTTTCTT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1928		chr12	TogoVar
ASCL5_chr1_201108943_201132184	201111922	T T	TCCTCCTC others(21): Show TCCTCCTCCTCTTCCTCCTCCTCCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0003c0003 a0005c0006 others(1): Show a0001c0001 a0003c0003 a0005c0006 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0003c0003t0002 a0005c0006t0001 a0006c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(78): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0118 a0001c0001t0003g0003 a0001c0001t0003g0074 a0001c0001t0003g0090 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0007g0117 a0001c0001t0011g0029 a0001c0001t0011g0069 a0001c0001t0013g0023 a0001c0001t0015g0030 a0001c0001t0020g0116 a0001c0001t0022g0061 a0001c0001t0023g0062 a0001c0001t0024g0058 a0001c0001t0025g0052 a0001c0001t0030g0136 a0003c0003t0002g0004 a0003c0003t0002g0026 a0003c0003t0002g0028 a0003c0003t0002g0031 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0056 a0005c0006t0001g0119 a0006c0005t0002g0059	297	418	0.7105	28	c.28 others(39): Show c.2802_*2829dupGTGGGGGAGGAGGAGGAAGAGGAGGAGG	ASCL5	ENSG00000232237.5	transcript	ENST00000449188.3	protein_coding		2020		chr1	TogoVar
ASCL5_chr1_201108943_201132184	201111972	C C	CCCCCACC others(21): Show CCCCCACCCTCCTCCTCTTCCTCCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	418	0.0024	28	c.27 others(39): Show c.2779_*2780insCAGGAGGAGGAAGAGGAGGAGGGTGGGG	ASCL5	ENSG00000232237.5	transcript	ENST00000449188.3	protein_coding		1970		chr1	TogoVar
ASCL5_chr1_201108943_201132184	201111985	C C	CCTCTTCC others(21): Show CCTCTTCCTCCTCCTCCCCCACCCTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0045 a0001c0001t0017g0045	1	418	0.0024	28	c.27 others(39): Show c.2766_*2767insAAGGAGGGTGGGGGAGGAGGAGGAAGAG	ASCL5	ENSG00000232237.5	transcript	ENST00000449188.3	protein_coding		1957		chr1	TogoVar
ASF1B_chr19_14114512_14141589	14137371	T T	TTCGCCCC others(21): Show TTCGCCCCCGAGGGGTTCGGATCCCGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA18997.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(137): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0024 a0001c0001t0003g0040 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0113 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0233 a0001c0001t0011g0147 a0001c0002t0002g0028 a0001c0002t0002g0038 a0001c0002t0002g0153 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0005g0039 a0001c0002t0005g0241 a0001c0002t0005g0242	201	334	0.6018	28	c.-91 others(37): Show c.-916_-915insGAGCGGGATCCGAACCCCTCGGGGGCGA	ASF1B	ENSG00000105011.9	transcript	ENST00000263382.8	protein_coding		783		chr19	TogoVar
ASF1B_chr19_14114512_14141589	14137422	C C	CCGCTCTC others(21): Show CCGCTCTCGCCCCCGAGGGGTTCGGATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01981.hp1 HG00738.hp2 HG00741.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0238 a0001c0001t0007g0239 a0001c0001t0007g0240 a0001c0001t0007g0238 a0001c0001t0007g0239 a0001c0001t0007g0240	3	334	0.0090	28	c.-96 others(37): Show c.-967_-966insTGATCCGAACCCCTCGGGGGCGAGAGCG	ASF1B	ENSG00000105011.9	transcript	ENST00000263382.8	protein_coding		834		chr19	TogoVar
ASGR2_chr17_7096326_7119822	7097674	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA19062.hp2 NA19091.hp1 NA18965.hp1 NA19062.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0281 a0001c0001t0005g0269 a0001c0001t0005g0276 a0001c0001t0003g0281 a0001c0001t0005g0269 a0001c0001t0005g0276	3	432	0.0069	28	c.39 others(39): Show c.3900_*3901insCACACACACACACACACACACACACACA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3651		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155411582	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03490.hp2 HG03492.hp2 others(3): Show HG00140.hp2 HG03490.hp2 HG03492.hp2 NA19002.hp1 NA19067.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0117 others(3): Show a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0117 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0016t0001g0138	6	182	0.0330	28	c.600 others(47): Show c.6008+4161_6008+4162insATATATATATATATATATATATATAT AT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(21): Show AATAAATAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	182	0.0055	28	c.600 others(47): Show c.6008+4157_6008+4158insATATATATATATATATATTTTTATTT AT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(21): Show AATAAATAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02559.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG02559.hp2 HG02895.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0019 a0002c0002t0001 a0001c0001t0009 a0001c0001t0019 a0002c0002t0001	a0001c0001t0009g0043 a0001c0001t0009g0044 a0001c0001t0019g0036 others(1): Show a0001c0001t0009g0043 a0001c0001t0009g0044 a0001c0001t0019g0036 a0002c0002t0001g0094	4	182	0.0220	28	c.600 others(47): Show c.6008+4157_6008+4158insATATATATATATATATATATTTATTT AT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(21): Show AATAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02895.hp2 HG02897.hp2 others(1): Show HG00280.hp2 HG02895.hp2 HG02897.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0018 a0001c0001t0005 a0001c0001t0016 a0001c0001t0018	a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0016g0031 others(1): Show a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0016g0031 a0001c0001t0018g0144	4	182	0.0220	28	c.600 others(47): Show c.6008+4157_6008+4158insATATATATATATATATATATATATTT AT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(21): Show AATATATATATATAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	182	0.0055	28	c.600 others(47): Show c.6008+4157_6008+4158insATATATATATATATTTATATATATAT AT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp2 NA18906.hp1 others(2): Show HG02145.hp2 HG02717.hp2 NA18906.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0037 a0001c0001t0001g0102 a0002c0002t0001g0087 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0102 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0098	5	182	0.0275	28	c.600 others(47): Show c.6008+4130_6008+4157dupATATATATATATATATATATATATAT AT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH2L_chr8_38100529_38145080	38142491	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02071.hp1 HG01081.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0083 a0001c0002t0001g0001 a0001c0001t0001g0083 a0001c0002t0001g0001	2	330	0.0061	28	c.34 others(39): Show c.3420_*3421insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding		2412		chr8	TogoVar
ASIC2_chr17_33008087_33298295	33269613	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02976.hp1 NA19043.hp2 others(1): Show HG01261.hp1 HG02976.hp1 NA19043.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0110 a0001c0002t0001g0120 a0001c0002t0001g0121 others(1): Show a0001c0002t0001g0110 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0004t0001g0149	4	240	0.0167	28	c.708 others(47): Show c.708+21767_708+21794dupAAGGAAGGAAGGAAGGAAGGAAGGAA GG	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269751	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0146 a0001c0004t0005g0146	1	240	0.0042	28	c.708 others(47): Show c.708+21656_708+21657insGGAAGGAAGGAAGGAAGGAAGGAAGG AA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIP_chr20_34236423_34274344	34258674	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp1 HG01168.hp1 others(32): Show HG00621.hp1 HG01074.hp1 HG01168.hp1 HG01258.hp1 HG01515.hp1 HG01934.hp1 HG02015.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02886.hp2 HG03225.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18944.hp1 NA18946.hp2 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18966.hp2 NA18970.hp2 NA18974.hp2 NA18979.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19056.hp2 NA19077.hp1 NA19084.hp2 NA19086.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0014 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0004t0001g0183 a0002c0002t0001g0010 a0002c0002t0001g0021 a0002c0002t0001g0164	35	306	0.1144	28	c.-10 others(45): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258690	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	306	0.0033	28	c.-10 others(45): Show c.-10-1674_-10-1673insTATATATATATATATATATATATACACA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258690	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA19089.hp1 HG01256.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0120 a0001c0001t0001g0121	2	306	0.0065	28	c.-10 others(45): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATACA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASL_chr7_66070819_66098576	66095358	G G	GCTAGTAT others(21): Show GCTAGTATGTGATGCCAGCCACTGGGTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	316	0.0032	28	c.24 others(39): Show c.2446_*2447insCTAGTATGTGATGCCAGCCACTGGGTTA	ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding		1783		chr7	TogoVar
ASMTL_chrX_1398139_1457909	1428646	C C	CAAATAAA others(21): Show CAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01257.hp2 HG01358.hp1 others(12): Show HG00438.hp1 HG01257.hp2 HG01358.hp1 HG01975.hp1 HG01993.hp2 HG02257.hp1 HG02622.hp1 HG02886.hp1 HG03486.hp2 NA18522.hp2 NA18984.hp1 NA18988.hp1 NA18993.hp1 NA19011.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0017	a0001c0001 a0002c0003 a0002c0004 others(4): Show a0001c0001 a0002c0003 a0002c0004 a0003c0002 a0003c0005 a0003c0029 a0017c0022	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 others(4): Show a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0003c0002t0001 a0003c0005t0001 a0003c0029t0001 a0017c0022t0001	a0001c0001t0001g0040 a0002c0003t0001g0176 a0002c0004t0001g0149 others(12): Show a0001c0001t0001g0040 a0002c0003t0001g0176 a0002c0004t0001g0149 a0003c0002t0001g0027 a0003c0002t0001g0108 a0003c0002t0001g0109 a0003c0002t0001g0140 a0003c0002t0001g0142 a0003c0002t0001g0144 a0003c0002t0001g0157 a0003c0002t0001g0159 a0003c0002t0001g0163 a0003c0005t0001g0037 a0003c0029t0001g0151 a0017c0022t0001g0017	15	185	0.0811	28	c.510 others(43): Show c.510-526_510-525insATTTATTTATTTATTTATTTATTTATTT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	6/12			chrX	TogoVar
ASMT_chrX_1610059_1648081	1610543	C C	CCAAGCCC others(21): Show CCAAGCCCCCAGGTCACTCCTACTCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA19082.hp1 NA18956.hp1 NA19082.hp1	a0001 a0012 a0001 a0012	a0001c0003 a0012c0007 a0001c0003 a0012c0007	a0001c0003t0001 a0012c0007t0001 a0001c0003t0001 a0012c0007t0001	a0001c0003t0001g0113 a0012c0007t0001g0036 a0001c0003t0001g0113 a0012c0007t0001g0036	2	223	0.0090	28	c.-46 others(39): Show c.-4657_-4656insCAAGCCCCCAGGTCACTCCTACTCCAGG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		4515		chrX	TogoVar
ASMT_chrX_1610059_1648081	1613176	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01257.hp2 HG01346.hp2 others(10): Show HG00423.hp2 HG01257.hp2 HG01346.hp2 HG01993.hp1 HG02293.hp1 HG02622.hp1 HG02723.hp1 NA18939.hp2 NA18941.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0068 others(10): Show a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0002g0140 a0001c0001t0002g0176 a0001c0003t0001g0032 a0001c0003t0002g0173 a0002c0002t0001g0222 a0002c0002t0002g0112	13	223	0.0583	28	c.-20 others(39): Show c.-2024_-2023insTTCTTTCTTTCTTTCTTTCTTTCTTTCT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1882		chrX	TogoVar
ASNS_chr7_97846677_97877408	97872310	T T	TGGCGCGG others(21): Show TGGCGCGGGGCGCAGGGCGCGGGGCGCAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18955.hp1 NA18977.hp2 others(3): Show HG01358.hp1 NA18955.hp1 NA18977.hp2 NA19057.hp1 NA19060.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0217 a0001c0001t0001g0218 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219	6	436	0.0138	28	c.-60 others(41): Show c.-60+40_-60+41insCTGCGCCCCGCGCCCTGCGCCCCGCGCC	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	1/12			chr7	TogoVar
ASNS_chr7_97846677_97877408	97872314	G G	GCGGGGCG others(21): Show GCGGGGCGCAGGGCGCGGGGCGCAGGGCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03491.hp2 NA18997.hp2 HG03209.hp2 HG03491.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228	3	436	0.0069	28	c.-60 others(41): Show c.-60+36_-60+37insTGCCCTGCGCCCCGCGCCCTGCGCCCCG	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	1/12			chr7	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp2 HG02300.hp2 others(1): Show HG01123.hp2 HG01167.hp2 HG02300.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0001 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0004g0247 others(1): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0004g0247 a0001c0001t0015g0009	4	258	0.0155	28	c.176 others(47): Show c.1764+8344_1764+8371dupACACACACACACACACACACACACAC AC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	296	0.0034	28	c.-18 others(39): Show c.-1897_-1896insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASTN1_chr1_176856067_177169712	176922556	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0077 a0001c0005t0004g0077	1	112	0.0089	28	c.267 others(49): Show c.2671+11595_2671+11596insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	16/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149485	A A	AATATATA others(21): Show AATATATATATAGTATATATATAGTAAAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0096 a0001c0003t0013g0096	1	112	0.0089	28	c.283 others(47): Show c.283+14908_283+14909insATTTACTATATATATACTATATATAT AT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149765	C C	CTGTATAT others(21): Show CTGTATATACATAGTAAATATATATACAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0108	1	112	0.0089	28	c.283 others(47): Show c.283+14601_283+14628dupCTGTATATATATTTACTATGTATATA CA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116718972	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02572.hp1 HG03017.hp1 others(5): Show HG01169.hp2 HG02572.hp1 HG03017.hp1 HG03139.hp2 HG03471.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0001c0022 a0004c0024	a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 a0001c0002t0004 a0001c0005t0005 a0001c0013t0009 a0001c0022t0001 a0004c0024t0013	a0001c0001t0001g0095 a0001c0001t0007g0078 a0001c0001t0015g0045 others(5): Show a0001c0001t0001g0095 a0001c0001t0007g0078 a0001c0001t0015g0045 a0001c0002t0004g0092 a0001c0005t0005g0007 a0001c0013t0009g0072 a0001c0022t0001g0020 a0004c0024t0013g0101	8	102	0.0784	28	c.280 others(47): Show c.2806+6798_2806+6799insTATATATATATATATATATATATATA TA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116790929	T T	TGAAAGAA others(21): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0073 a0001c0008t0005g0073	1	102	0.0098	28	c.239 others(49): Show c.2396+14675_2396+14702dupTTTCTTTCTTTCTTTCTTTCTTTC TTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116790955	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0003 a0007c0018t0003	a0007c0018t0003g0031 a0007c0018t0003g0031	1	102	0.0098	28	c.239 others(49): Show c.2396+14676_2396+14677insCTTTCTTTTCTTTCTTTCTTTCTT TCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116790955	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0093 a0001c0003t0003g0030 a0001c0002t0001g0093 a0001c0003t0003g0030	2	102	0.0196	28	c.239 others(49): Show c.2396+14676_2396+14677insCTTTTCTTTCTTTCTTTCTTTCTT TCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116816896	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0003 a0005c0015t0003	a0005c0015t0003g0019 a0005c0015t0003g0019	1	102	0.0098	28	c.220 others(47): Show c.2207+3720_2207+3721insATTTATTTATTTATTTATTTATTTAT TT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116933979	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01934.hp2 HG03239.hp1 others(3): Show HG00735.hp2 HG01934.hp2 HG03239.hp1 NA18906.hp1 NA19066.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0003t0006 a0001c0009t0004	a0001c0001t0002g0040 a0001c0002t0001g0093 a0001c0002t0004g0029 others(3): Show a0001c0001t0002g0040 a0001c0002t0001g0093 a0001c0002t0004g0029 a0001c0002t0008g0024 a0001c0003t0006g0017 a0001c0009t0004g0032	6	102	0.0588	28	c.188 others(49): Show c.1889+41228_1889+41229insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116948785	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	102	0.0098	28	c.188 others(49): Show c.1889+26422_1889+26423insAAAAAAAAAAAAAAAACAAAAAAA AAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116998549	T T	TCATCCAT others(21): Show TCATCCATCCATCCATCCATCCATCCATC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02559.hp2 HG01496.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0070 a0001c0002t0003g0066 a0001c0001t0002g0070 a0001c0002t0003g0066	2	102	0.0196	28	c.159 others(47): Show c.1591+9542_1591+9543insGATGGATGGATGGATGGATGGATGGA TG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003530	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp1 HG02698.hp2 others(4): Show HG00735.hp1 HG02109.hp1 HG02698.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0003t0001 a0001c0003t0012 a0001c0005t0005 a0001c0007t0001	a0001c0001t0001g0099 a0001c0001t0003g0013 a0001c0001t0008g0065 others(4): Show a0001c0001t0001g0099 a0001c0001t0003g0013 a0001c0001t0008g0065 a0001c0003t0001g0038 a0001c0003t0012g0001 a0001c0005t0005g0007 a0001c0007t0001g0011	7	102	0.0686	28	c.159 others(47): Show c.1591+4561_1591+4562insACACACACACACACACACACACACAC AC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060432	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0011 a0001c0007t0001g0011	1	102	0.0098	28	c.127 others(49): Show c.1277-20468_1277-20467insCTCTCTCTCCCTTCCTTCCTTCCT TCCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060438	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	102	0.0098	28	c.127 others(49): Show c.1277-20474_1277-20473insTTCTTTCTTTCTTTCTTTCTTTCT TTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117116037	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG01884.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0087 a0001c0001t0011g0002 a0001c0001t0007g0087 a0001c0001t0011g0002	2	102	0.0196	28	c.116 others(49): Show c.1169-19887_1169-19886insATATATATATATATATATATATAT ATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120018	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0086 a0001c0001t0009g0086	1	102	0.0098	28	c.116 others(49): Show c.1168+21307_1168+21308insTATATATATATATACACACACACA CACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATGTAT others(21): Show GTATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02965.hp1 NA19010.hp1 others(1): Show HG01109.hp2 HG02965.hp1 NA19010.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0003 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0003 a0001c0003t0006	a0001c0001t0002g0018 a0001c0002t0001g0042 a0001c0003t0003g0030 others(1): Show a0001c0001t0002g0018 a0001c0002t0001g0042 a0001c0003t0003g0030 a0001c0003t0006g0026	4	102	0.0392	28	c.631 others(47): Show c.631-10794_631-10793insTATATATATATATATATATATATACA TA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225574	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	102	0.0098	28	c.631 others(47): Show c.631-10833_631-10832insGTGTATATATATATATATATATATAT AT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASXL2_chr2_25728753_25883487	25849064	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01167.hp1 others(17): Show HG00741.hp2 HG01074.hp2 HG01167.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01952.hp2 HG02723.hp1 HG02922.hp1 HG03041.hp2 HG03710.hp1 NA18522.hp2 NA18941.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0003 a0009c0013 a0001c0001 a0002c0003 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0025 a0001c0001t0042 a0002c0003t0008 a0009c0013t0006	a0001c0001t0001g0101 a0001c0001t0001g0171 a0001c0001t0001g0172 others(17): Show a0001c0001t0001g0101 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0221 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0046 a0001c0001t0009g0022 a0001c0001t0009g0027 a0001c0001t0010g0211 a0001c0001t0011g0066 a0001c0001t0013g0032 a0001c0001t0018g0084 a0001c0001t0025g0164 a0001c0001t0042g0081 a0002c0003t0008g0075 a0009c0013t0006g0057	20	222	0.0901	28	c.58- others(43): Show c.58-3502_58-3501insATATATATATATATATATATATATATAT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12			chr2	TogoVar
ASZ1_chr7_117358222_117432493	117379168	T T	TATATATA others(21): Show TATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	306	0.0033	28	c.105 others(45): Show c.1055+769_1055+770insGTGTGTGTGTGTATATATATATATATAT	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar

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