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
ANO1_chr11_70073317_70194530	70186352	G G	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02965.hp2 HG03453.hp2 others(1): Show HG01516.hp1 HG02965.hp2 HG03453.hp2 NA18967.hp2	a0001 a0009 a0015 a0001 a0009 a0015	a0001c0001 a0009c0027 a0015c0020 a0001c0001 a0009c0027 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0009c0027t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0009c0027t0001 a0015c0020t0001	a0001c0001t0001g0113 a0001c0001t0002g0245 a0009c0027t0001g0114 others(1): Show a0001c0001t0001g0113 a0001c0001t0002g0245 a0009c0027t0001g0114 a0015c0020t0001g0175	4	302	0.0133	24	c.269 others(41): Show c.2694+680_2694+703dupGAAGGAAGGAAGGAAGGAAGGAAG	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO2_chr12_5557655_5950259	5610723	C C	CATATATA others(17): Show CATATATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02622.hp1 HG03471.hp2 others(1): Show HG00642.hp2 HG02622.hp1 HG03471.hp2 HG03704.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0017 a0001c0001 a0014c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0014c0017t0001	a0001c0001t0001g0103 a0001c0001t0003g0015 a0001c0001t0009g0058 others(1): Show a0001c0001t0001g0103 a0001c0001t0003g0015 a0001c0001t0009g0058 a0014c0017t0001g0095	4	162	0.0247	24	c.208 others(43): Show c.2087+1932_2087+1933insATATATATATATATATGTATATAT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	19/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5694251	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0067 a0004c0009t0001g0067	1	162	0.0062	24	c.154 others(45): Show c.1545+38245_1545+38268dupCTCTCTCTCTCTCTCTCTCTCTCT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	14/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5880900	G G	GGGATGGA others(17): Show GGGATGGATGGATGGATGGATGGAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01192.hp2 others(10): Show HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01884.hp2 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02809.hp2 HG03130.hp1 HG03688.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0001c0005t0002 a0001c0005t0006 a0002c0003t0002 a0002c0006t0002	a0001c0001t0001g0028 a0001c0001t0001g0071 a0001c0001t0002g0140 others(10): Show a0001c0001t0001g0028 a0001c0001t0001g0071 a0001c0001t0002g0140 a0001c0001t0002g0149 a0001c0001t0003g0004 a0001c0005t0001g0003 a0001c0005t0002g0134 a0001c0005t0002g0148 a0001c0005t0006g0130 a0001c0005t0006g0131 a0002c0003t0002g0155 a0002c0006t0002g0125 a0002c0006t0002g0128	13	162	0.0803	24	c.535 others(43): Show c.535-26760_535-26759insATCCATCCATCCATCCATCCATCC	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5906794	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02922.hp2 HG01109.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0059 a0001c0001t0005g0139 a0001c0001t0001g0059 a0001c0001t0005g0139	2	162	0.0124	24	c.534 others(43): Show c.534+14222_534+14245dupATTTATTTATTTATTTATTTATTT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO3_chr11_26327130_26668289	26441106	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0035 a0001c0009t0004g0035	1	190	0.0053	24	c.47- others(37): Show c.47-806_47-783dupTTTTTTTTTTTTTTTTTTTTTTTT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26529427	T T	TAATTATA others(17): Show TAATTATATATTATATATTATTATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0099	1	190	0.0053	24	c.738 others(41): Show c.738-1778_738-1777insAATTATATATTATATATTATTATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26			chr11	TogoVar
ANO3_chr11_26327130_26668289	26544251	C C	CACATATA others(17): Show CACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01255.hp1 others(8): Show HG01070.hp2 HG01071.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG02559.hp1 HG03471.hp2 HG03540.hp2 HG06807.hp2 NA19001.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0002t0007 a0001c0002t0011 others(6): Show a0001c0001t0001 a0001c0002t0007 a0001c0002t0011 a0001c0004t0003 a0001c0004t0004 a0001c0004t0017 a0001c0006t0006 a0001c0006t0012 a0001c0006t0025	a0001c0001t0001g0173 a0001c0002t0007g0138 a0001c0002t0011g0108 others(8): Show a0001c0001t0001g0173 a0001c0002t0007g0138 a0001c0002t0011g0108 a0001c0004t0003g0018 a0001c0004t0003g0124 a0001c0004t0003g0166 a0001c0004t0004g0052 a0001c0004t0017g0069 a0001c0006t0006g0135 a0001c0006t0012g0180 a0001c0006t0025g0060	11	190	0.0579	24	c.115 others(43): Show c.1154+2184_1154+2185insCATATATATATATATATATATATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26544251	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01168.hp2 HG02809.hp2 others(5): Show HG00639.hp2 HG01168.hp2 HG02809.hp2 HG02976.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0007 a0001c0003 a0001c0005 a0001c0007	a0001c0003t0002 a0001c0003t0007 a0001c0003t0008 others(3): Show a0001c0003t0002 a0001c0003t0007 a0001c0003t0008 a0001c0005t0006 a0001c0005t0010 a0001c0007t0001	a0001c0003t0002g0044 a0001c0003t0002g0184 a0001c0003t0002g0185 others(5): Show a0001c0003t0002g0044 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0007g0070 a0001c0003t0008g0156 a0001c0005t0006g0144 a0001c0005t0010g0081 a0001c0007t0001g0131	8	190	0.0421	24	c.115 others(43): Show c.1154+2206_1154+2207insTATATATATATATATATATATATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26544273	T T	TATATATA others(17): Show TATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18955.hp1 HG00597.hp2 NA18955.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0004 a0001c0004t0003 a0001c0004t0004	a0001c0004t0003g0024 a0001c0004t0004g0059 a0001c0004t0003g0024 a0001c0004t0004g0059	2	190	0.0105	24	c.115 others(43): Show c.1154+2206_1154+2207insTATATATATATATACACACACACA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26544273	T T	TATATATA others(17): Show TATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18949.hp2 HG03491.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0005 a0001c0002t0002 a0001c0006t0005	a0001c0002t0002g0188 a0001c0006t0005g0042 a0001c0002t0002g0188 a0001c0006t0005g0042	2	190	0.0105	24	c.115 others(43): Show c.1154+2206_1154+2207insTATATATATATATATACACACACA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26586503	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02976.hp1 HG03130.hp2 others(3): Show HG00735.hp1 HG02976.hp1 HG03130.hp2 HG03239.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0010 a0001c0001t0001 a0001c0006t0010	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(3): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0146 a0001c0006t0010g0179	6	190	0.0316	24	c.144 others(45): Show c.1448-11844_1448-11843insTTTTTTTTTTTTTTTTTTTTTTTT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO4_chr12_100789776_101133629	100919732	G G	GTATCTAT others(17): Show GTATCTATCTATCTATCTATCTGTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	236	0.0042	24	c.56- others(39): Show c.56-2491_56-2490insCTATCTATCTATCTATCTGTCTAT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO4_chr12_100789776_101133629	100970663	C C	CGCCTTCC others(17): Show CGCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18963.hp1 NA18962.hp2 NA18963.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0012 a0001c0002 a0003c0012	a0001c0002t0002 a0003c0012t0001 a0001c0002t0002 a0003c0012t0001	a0001c0002t0002g0213 a0003c0012t0001g0129 a0001c0002t0002g0213 a0003c0012t0001g0129	2	236	0.0085	24	c.457 others(39): Show c.457-643_457-642insGCCTTCCTTCCTTCCTTCCTTCCT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	5/27			chr12	TogoVar
ANO5_chr11_22188085_22288357	22193331	A A	AAGGAGGA others(17): Show AAGGAGGAGGGGAATGAGGAGGAAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02976.hp2 HG02970.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0016 a0001c0001t0030g0017 a0001c0001t0030g0016 a0001c0001t0030g0017	2	364	0.0055	24	c.-15 others(33): Show c.-156_-155insAGGGGAATGAGGAGGAAGAGGAGG	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	1/22	155	INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22193331	A A	AAGGAGGA others(17): Show AAGGAGGAGGGGAATGAGGAGGAGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp1 others(270): Show HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 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.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0012 a0013	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0010 a0001c0015 a0002c0003 a0002c0014 a0002c0016 a0003c0005 a0004c0009 a0005c0008 a0006c0007 a0007c0011 a0010c0013 a0012c0020 a0013c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(60): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0059 a0001c0001t0060 a0001c0002t0004 a0001c0004t0004 a0001c0004t0025 a0001c0006t0008 a0001c0010t0014 a0001c0010t0022 a0001c0015t0007 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 a0002c0003t0011 a0002c0003t0013 a0002c0003t0015 a0002c0003t0023 a0002c0003t0024 a0002c0003t0033 a0002c0003t0034 a0002c0003t0035 a0002c0003t0036 a0002c0003t0037 a0002c0003t0040 a0002c0003t0047 a0002c0003t0049 a0002c0014t0001 a0002c0016t0001 a0003c0005t0019 a0003c0005t0020 a0004c0009t0001 a0004c0009t0021 a0004c0009t0051 a0005c0008t0004 a0006c0007t0001 a0007c0011t0018 a0010c0013t0045 a0012c0020t0001 a0013c0021t0014	a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0101 others(260): Show a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0140 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0236 a0001c0001t0001g0273 a0001c0001t0001g0308 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0003g0005 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0185 a0001c0001t0003g0188 a0001c0001t0004g0112 a0001c0001t0004g0125 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0170 a0001c0001t0004g0176 a0001c0001t0004g0179 a0001c0001t0004g0186 a0001c0001t0004g0272 a0001c0001t0004g0275 a0001c0001t0004g0278 a0001c0001t0004g0286 a0001c0001t0004g0325 a0001c0001t0005g0015 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0001t0005g0335 a0001c0001t0005g0337 a0001c0001t0005g0338 a0001c0001t0005g0339 a0001c0001t0005g0340 a0001c0001t0005g0341 a0001c0001t0005g0342 a0001c0001t0005g0343 a0001c0001t0005g0344 a0001c0001t0005g0345 a0001c0001t0005g0349 a0001c0001t0006g0285 a0001c0001t0006g0293 a0001c0001t0006g0295 a0001c0001t0006g0299 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0006g0312 a0001c0001t0007g0011 a0001c0001t0007g0024 a0001c0001t0007g0195 a0001c0001t0007g0279 a0001c0001t0007g0280 a0001c0001t0008g0306 a0001c0001t0009g0013 a0001c0001t0009g0311 a0001c0001t0009g0313 a0001c0001t0009g0315 a0001c0001t0010g0102 a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0011g0287 a0001c0001t0011g0317 a0001c0001t0011g0323 a0001c0001t0014g0307 a0001c0001t0016g0010 a0001c0001t0016g0207 a0001c0001t0018g0334 a0001c0001t0025g0296 a0001c0001t0038g0169 a0001c0001t0039g0194 a0001c0001t0041g0126 a0001c0001t0042g0167 a0001c0001t0043g0210 a0001c0001t0044g0206 a0001c0001t0046g0247 a0001c0001t0048g0314 a0001c0001t0050g0277 a0001c0001t0059g0348 a0001c0001t0060g0336 a0001c0002t0004g0052 a0001c0004t0004g0014 a0001c0004t0004g0309 a0001c0004t0004g0318 a0001c0004t0004g0319 a0001c0004t0004g0320 a0001c0004t0004g0321 a0001c0004t0004g0322 a0001c0004t0025g0310 a0001c0006t0008g0007 a0001c0006t0008g0163 a0001c0006t0008g0164 a0001c0006t0008g0165 a0001c0010t0014g0294 a0001c0010t0022g0297 a0001c0010t0022g0298 a0001c0015t0007g0274 a0002c0003t0001g0009 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0173 a0002c0003t0001g0177 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0208 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0235 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0242 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0252 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0260 a0002c0003t0001g0261 a0002c0003t0001g0264 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0003g0221 a0002c0003t0003g0231 a0002c0003t0003g0233 a0002c0003t0003g0290 a0002c0003t0004g0211 a0002c0003t0004g0216 a0002c0003t0004g0232 a0002c0003t0004g0253 a0002c0003t0004g0255 a0002c0003t0004g0256 a0002c0003t0004g0262 a0002c0003t0006g0269 a0002c0003t0006g0270 a0002c0003t0006g0271 a0002c0003t0007g0243 a0002c0003t0011g0291 a0002c0003t0011g0292 a0002c0003t0013g0225 a0002c0003t0013g0226 a0002c0003t0013g0251 a0002c0003t0015g0197 a0002c0003t0015g0199 a0002c0003t0015g0200 a0002c0003t0023g0213 a0002c0003t0023g0263 a0002c0003t0024g0209 a0002c0003t0024g0246 a0002c0003t0033g0265 a0002c0003t0034g0222 a0002c0003t0035g0241 a0002c0003t0036g0250 a0002c0003t0037g0257 a0002c0003t0040g0220 a0002c0003t0047g0254 a0002c0003t0049g0234 a0002c0014t0001g0224 a0002c0016t0001g0219 a0003c0005t0019g0021 a0003c0005t0019g0022 a0003c0005t0019g0023 a0003c0005t0020g0018 a0003c0005t0020g0019 a0003c0005t0020g0020 a0004c0009t0001g0304 a0004c0009t0021g0303 a0004c0009t0021g0316 a0004c0009t0051g0305 a0005c0008t0004g0006 a0005c0008t0004g0154 a0005c0008t0004g0155 a0006c0007t0001g0281 a0006c0007t0001g0282 a0006c0007t0001g0283 a0006c0007t0001g0284 a0007c0011t0018g0346 a0007c0011t0018g0347 a0010c0013t0045g0276 a0012c0020t0001g0223 a0013c0021t0014g0300	273	364	0.7500	24	c.-15 others(33): Show c.-156_-155insAGGGGAATGAGGAGGAGGAGGAGG	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	1/22	155	INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22193331	A A	AAGGAGGA others(17): Show AAGGAGGAGGGTAATGAGGAGGAGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0052 a0008c0012t0052	a0008c0012t0052g0107 a0008c0012t0052g0107	1	364	0.0028	24	c.-15 others(33): Show c.-156_-155insAGGGTAATGAGGAGGAGGAGGAGG	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	1/22	155	INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22218115	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18941.hp2 NA18960.hp2 others(6): Show HG02027.hp1 NA18941.hp2 NA18960.hp2 NA18963.hp1 NA18970.hp2 NA18986.hp2 NA19012.hp1 NA19074.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0127 a0001c0001t0003g0128 others(6): Show a0001c0001t0003g0114 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0150	9	364	0.0247	24	c.139 others(39): Show c.139-129_139-106dupACACACACACACACACACACACAC	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22218115	T T	TCTCACAC others(17): Show TCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp1 HG03710.hp1 others(1): Show HG00733.hp2 HG01261.hp1 HG03710.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0046	a0001c0001t0001g0273 a0001c0001t0004g0278 a0001c0001t0007g0024 others(1): Show a0001c0001t0001g0273 a0001c0001t0004g0278 a0001c0001t0007g0024 a0001c0001t0046g0247	4	364	0.0110	24	c.139 others(39): Show c.139-130_139-129insTCACACACACACACACACACACAC	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22267508	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18955.hp1 NA19010.hp2 HG00735.hp1 NA18955.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0005 a0001c0001t0006g0299 a0001c0001t0003g0005 a0001c0001t0006g0299	3	364	0.0082	24	c.189 others(43): Show c.1899-2788_1899-2787insTATATATATATATATATATATATA	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22267508	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0017 a0001c0001t0030g0017	1	364	0.0028	24	c.189 others(43): Show c.1899-2803_1899-2802insTTATATATATATATATATATATAT	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO6_chr12_45211095_45437349	45255818	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03225.hp1 HG02451.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0138 a0001c0001t0008g0137 a0001c0001t0004g0138 a0001c0001t0008g0137	2	234	0.0086	24	c.70+ others(41): Show c.70+39447_70+39448insTTTTTTTTTTTTTTTTTTTTTTTT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02071.hp1 HG03041.hp1 others(5): Show HG01169.hp1 HG02071.hp1 HG03041.hp1 HG03688.hp2 NA18972.hp1 NA18983.hp2 NA18990.hp1 NA19088.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0001c0001t0012 a0009c0010t0001 a0001c0001t0001 a0001c0001t0012 a0009c0010t0001	a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0059 others(5): Show a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0123 a0001c0001t0001g0230 a0001c0001t0012g0038 a0009c0010t0001g0083	8	234	0.0342	24	c.151 others(43): Show c.151-14181_151-14180insGTGTGTATATATATATATATATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18984.hp1 NA18978.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0042 a0001c0001t0011g0086 a0001c0001t0001g0042 a0001c0001t0011g0086	2	234	0.0086	24	c.151 others(43): Show c.151-14181_151-14180insGTGTGTGTATATATATATATATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANOS1_chrX_8523874_8737137	8545382	G G	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19043.hp1 HG02280.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0027 a0002c0002t0006 a0002c0002t0027	a0002c0002t0006g0158 a0002c0002t0027g0105 a0002c0002t0006g0158 a0002c0002t0027g0105	2	231	0.0087	24	c.135 others(43): Show c.1355-5648_1355-5625dupTTCCTTCCTTCCTTCCTTCCTTCC	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	9/13			chrX	TogoVar
ANOS1_chrX_8523874_8737137	8545409	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG02895.hp1 others(1): Show HG02109.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0100 others(1): Show a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0100 a0002c0002t0001g0101	4	231	0.0173	24	c.135 others(43): Show c.1355-5652_1355-5651insGCCTTCCTTCCTTCCTTCCTTCCT	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	9/13			chrX	TogoVar
ANP32E_chr1_150213417_150241112	150221600	G G	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0182 a0002c0001t0007g0182	1	370	0.0027	24	c.737 others(39): Show c.737-840_737-839insTTCCTTCCTTCCTTCCTTCCTTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANP32E_chr1_150213417_150241112	150221604	G G	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(53): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01433.hp2 HG01516.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02523.hp1 HG02602.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp1 HG02896.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18940.hp1 NA18942.hp2 NA18947.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18978.hp2 NA18986.hp2 NA18989.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp2 NA19063.hp2 NA19070.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0001 a0002c0001t0008 a0002c0001t0016 a0003c0006t0002	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0014 others(42): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0014 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0055 a0001c0002t0001g0214 a0001c0002t0001g0217 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0243 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0273 a0001c0002t0001g0276 a0001c0002t0001g0279 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0291 a0001c0002t0001g0308 a0001c0002t0001g0315 a0001c0002t0002g0259 a0001c0002t0007g0224 a0001c0002t0007g0239 a0001c0003t0001g0023 a0002c0001t0008g0088 a0002c0001t0008g0089 a0002c0001t0008g0098 a0002c0001t0008g0099 a0002c0001t0016g0162 a0003c0006t0002g0059	56	370	0.1514	24	c.737 others(39): Show c.737-867_737-844dupTTCCTTCCTTCCTTCCTTCCTTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANTXR1_chr2_69008179_69254327	69096257	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19011.hp2 HG02040.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0163 a0001c0001t0001g0140 a0001c0001t0001g0163	2	206	0.0097	24	c.703 others(41): Show c.703+5347_703+5370dupAAGGAAGGAAGGAAGGAAGGAAGG	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXR1_chr2_69008179_69254327	69219384	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG02615.hp2 others(9): Show HG00735.hp2 HG01175.hp1 HG02615.hp2 HG03704.hp2 HG04228.hp1 NA18906.hp1 NA18943.hp2 NA18980.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0069 others(9): Show a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0167 a0001c0001t0001g0196 a0001c0001t0003g0139 a0001c0001t0004g0111 a0001c0001t0004g0200	12	206	0.0583	24	c.143 others(45): Show c.1435-25826_1435-25803dupACACACACACACACACACACACAC	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXRL_chr10_46281997_46335129	46295583	G G	GGTTAGAG others(17): Show GGTTAGAGTTAGAGTTAGAGTTAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00609.hp2 others(30): Show HG00140.hp2 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01433.hp1 HG02080.hp2 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG03704.hp1 HG04115.hp1 HG04228.hp1 NA18939.hp2 NA18940.hp1 NA18949.hp2 NA18951.hp1 NA18962.hp2 NA18967.hp2 NA18973.hp2 NA18986.hp2 NA18991.hp1 NA19005.hp2 NA19007.hp2 NA19058.hp1 NA19064.hp1 NA19070.hp1 NA19080.hp1 NA20129.hp2	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0008 a0003c0011 a0003c0013 a0003c0014 a0015c0026	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0003c0008t0002 a0003c0011t0002 a0003c0013t0002 a0003c0014t0002 a0015c0026t0002	a0001c0001t0001g0095 a0001c0001t0001g0117 a0001c0001t0001g0119 others(24): Show a0001c0001t0001g0095 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0002t0001g0022 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0303 a0001c0003t0001g0118 a0001c0006t0001g0125 a0003c0008t0002g0007 a0003c0008t0002g0017 a0003c0008t0002g0048 a0003c0008t0002g0049 a0003c0008t0002g0053 a0003c0008t0002g0054 a0003c0008t0002g0055 a0003c0011t0002g0019 a0003c0011t0002g0052 a0003c0013t0002g0018 a0003c0013t0002g0050 a0003c0014t0002g0056 a0015c0026t0002g0060	33	369	0.0894	24	c.393 others(39): Show c.393-418_393-395dupAGTTAGAGTTAGAGTTAGAGTTAG	ANTXRL	ENSG00000274209.6	transcript	ENST00000620264.5	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANXA10_chr4_168087537_168192736	168096911	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG01884.hp1 others(8): Show HG00639.hp2 HG01243.hp2 HG01884.hp1 HG02055.hp1 HG02486.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03453.hp1 HG06807.hp1 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0006c0007	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0003c0004t0001 a0006c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0213 a0001c0001t0001g0225 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0213 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0267 a0001c0003t0001g0038 a0002c0002t0001g0226 a0003c0004t0001g0224 a0006c0007t0001g0268	11	284	0.0387	24	c.18+ others(39): Show c.18+4211_18+4212insATATATATATATATATATATATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168096926	A A	ATATATGT others(17): Show ATATATGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	284	0.0035	24	c.18+ others(39): Show c.18+4211_18+4212insATGTATATATATATATATATGTAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168155945	A A	ATATATGA others(17): Show ATATATGATATATCATATATTATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0015 a0006c0007t0001g0015	1	284	0.0035	24	c.196 others(41): Show c.196-6559_196-6536dupTTATATGATATATCATATATTATA	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA11_chr10_80145889_80210537	80166042	G G	GCGTGCGC others(17): Show GCGTGCGCACACACGCGCACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0260 a0001c0001t0008g0260	1	386	0.0026	24	c.858 others(37): Show c.858+41_858+42insTGTGTGTGCGCGTGTGTGCGCACG	ANXA11	ENSG00000122359.18	transcript	ENST00000422982.8	protein_coding	8/15			chr10	TogoVar
ANXA11_chr10_80145889_80210537	80188480	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18747.hp1 HG00735.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0146 a0002c0002t0003g0057 a0002c0002t0001g0146 a0002c0002t0003g0057	2	386	0.0052	24	c.-57 others(43): Show c.-57-12349_-57-12326dupATATATATATATATATATATATAT	ANXA11	ENSG00000122359.18	transcript	ENST00000422982.8	protein_coding	1/15			chr10	TogoVar
ANXA11_chr10_80145889_80210537	80188511	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03669.hp2 NA18988.hp2 others(2): Show HG02129.hp2 HG03669.hp2 NA18988.hp2 NA19011.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 a0009c0013t0007	a0001c0001t0004g0303 a0001c0001t0004g0311 a0001c0001t0007g0035 others(2): Show a0001c0001t0004g0303 a0001c0001t0004g0311 a0001c0001t0007g0035 a0001c0001t0015g0037 a0009c0013t0007g0042	5	386	0.0130	24	c.-57 others(43): Show c.-57-12357_-57-12356insCATATATATATATATATATATATA	ANXA11	ENSG00000122359.18	transcript	ENST00000422982.8	protein_coding	1/15			chr10	TogoVar
ANXA2_chr15_60342151_60402986	60398993	C C	CGAGAGAG others(17): Show CGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG00741.hp1 others(6): Show HG00140.hp1 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01192.hp2 HG02886.hp2 HG03669.hp1 HG03834.hp2 NA18612.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0034 a0001c0001t0001g0193 a0001c0001t0001g0220 others(6): Show a0001c0001t0001g0034 a0001c0001t0001g0193 a0001c0001t0001g0220 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0288 a0001c0001t0001g0297 a0002c0002t0001g0219 a0002c0002t0001g0321	9	334	0.0270	24	c.-10 others(35): Show c.-1086_-1063dupTCTCTCTCTCTCTCTCTCTCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1008		chr15	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGAGAGAGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG02922.hp1 others(1): Show HG00323.hp1 HG01099.hp2 HG02922.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0168 a0001c0001t0001g0223 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0168 a0001c0001t0001g0223 a0001c0001t0001g0243	4	334	0.0120	24	c.-10 others(35): Show c.-1091_-1090insACTCTCTCTCTCTCTCTCTCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1036		chr15	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02976.hp2 HG03831.hp2 others(3): Show HG02523.hp1 HG02976.hp2 HG03831.hp2 NA18939.hp1 NA18979.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0121 others(3): Show a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0162 a0001c0001t0001g0233	6	334	0.0180	24	c.-10 others(35): Show c.-1091_-1090insACTCCCTCTCTCTCTCTCTCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1036		chr15	TogoVar
ANXA4_chr2_69737134_69832112	69775961	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19240.hp2 HG03195.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0013 a0001c0001t0006 a0002c0002t0013	a0001c0001t0006g0342 a0002c0002t0013g0129 a0001c0001t0006g0342 a0002c0002t0013g0129	2	346	0.0058	24	c.-46 others(41): Show c.-46-5552_-46-5529dupTATTTATTTATTTATTTATTTATT	ANXA4	ENSG00000196975.16	transcript	ENST00000394295.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA6_chr5_151095706_151162779	151140594	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01891.hp1 HG01361.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0018 a0001c0003t0001g0019 a0001c0001t0002g0018 a0001c0003t0001g0019	2	408	0.0049	24	c.19- others(37): Show c.19-352_19-351insAATATATATATATATATATATATA	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	2/25			chr5	TogoVar
ANXA8_chr10_47462993_47489115	47486972	C C	CAAAACAA others(17): Show CAAAACAAAAACAAAAACAAAAACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0064 a0003c0006t0002g0064	1	412	0.0024	24	c.-30 others(35): Show c.-3040_-3039insTGTTTTTGTTTTTGTTTTTGTTTT	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding		2858		chr10	TogoVar
AOAH_chr7_36507941_36729494	36517156	G G	GTCTTTCT others(17): Show GTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18906.hp1 HG03098.hp1 NA18906.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0004 a0001c0001t0001 a0005c0006t0004	a0001c0001t0001g0090 a0005c0006t0004g0004 a0001c0001t0001g0090 a0005c0006t0004g0004	2	306	0.0065	24	c.160 others(43): Show c.1600-3800_1600-3777dupAAGAAAGAAAGAAAGAAAGAAAGA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36517214	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTCTTTCTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02004.hp1 HG02004.hp2 others(1): Show HG00558.hp1 HG02004.hp1 HG02004.hp2 HG02258.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0002c0004 others(1): Show a0001c0001 a0001c0009 a0002c0004 a0003c0013	a0001c0001t0001 a0001c0009t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0009t0001 a0002c0004t0001 a0003c0013t0001	a0001c0001t0001g0156 a0001c0009t0001g0079 a0002c0004t0001g0228 others(1): Show a0001c0001t0001g0156 a0001c0009t0001g0079 a0002c0004t0001g0228 a0003c0013t0001g0303	4	306	0.0131	24	c.160 others(43): Show c.1600-3835_1600-3834insAAGAGAAAGAAAGAAAGAAAGAAA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36517262	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG02145.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0158 a0001c0001t0001g0081 a0001c0001t0001g0158	2	306	0.0065	24	c.160 others(43): Show c.1600-3906_1600-3883dupAAGAAAGAAAGAAAGAAAGAAAGA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36678600	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0255 a0001c0003t0001g0255	1	306	0.0033	24	c.224 others(41): Show c.224-4592_224-4591insGCGCGCGCACACACACACACACAC	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	2/20			chr7	TogoVar
AOC2_chr17_42839580_42855707	42848065	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	290	0.0035	24	c.158 others(42): Show c.1589-1018_1589-995dupTTTTTTTTTTTTTTTTTTTTTTTT	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
AOC3_chr17_42846199_42863124	42848065	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0008 a0002c0007t0002g0008	1	284	0.0035	24	c.-32 others(35): Show c.-3279_-3278insTTTTTTTTTTTTTTTTTTTTTTTT	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding		3133		chr17	TogoVar
AOPEP_chr9_94721699_95092159	94728239	G G	GCGCGCGC others(17): Show GCGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	182	0.0055	24	c.-13 others(43): Show c.-136+1489_-136+1490insGCGCGCGCGCGCACACACACACAC	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)