Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
CEP72_chr5_607340_658553	649491	GGACTGTG others(6): Show GGACTGTGAGGTGT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01175.hp1 others(7): Show HG00735.hp1 HG01069.hp2 HG01175.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03688.hp1 NA18942.hp1 NA20752.hp2 NA20905.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0001 a0002c0002t0001 a0005c0007t0001	a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 others(7): Show a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0005c0007t0001g0076	10	91	0.1099	-13	c.177 others(32): Show c.1778+1603_1778+1615delACTGTGAGGTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	649531	GGACTGTG others(6): Show GGACTGTGAGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0022 a0003c0003t0002g0023	2	91	0.0220	-13	c.177 others(32): Show c.1778+1639_1778+1651delTGTGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	649623	GGACTGTG others(6): Show GGACTGTGAGGTGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA20129.hp2 NA20905.hp2 HG02451.hp2 NA20129.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0002 a0001c0001t0001 a0003c0005t0002	a0001c0001t0001g0046 a0003c0005t0002g0014 a0003c0005t0002g0019 a0001c0001t0001g0046 a0003c0005t0002g0014 a0003c0005t0002g0019	3	91	0.0330	-13	c.177 others(32): Show c.1778+1735_1778+1747delACTGTGAGGTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	649823	GGACTGTG others(6): Show GGACTGTGAGGCGT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA20752.hp1 HG00741.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0089 a0001c0001t0001g0060 a0001c0001t0001g0089	2	91	0.0220	-13	c.177 others(32): Show c.1778+1939_1778+1951delTGAGGCGTGACTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650083	CGTGACTG others(6): Show CGTGACTGTGAGGT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG00735.hp2 others(26): Show HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG02015.hp2 HG02129.hp1 HG02129.hp2 HG03669.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18982.hp2 NA18999.hp2 NA19007.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 others(26): Show a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068	29	91	0.3187	-13	c.177 others(32): Show c.1778+2171_1778+2183delACTGTGAGGTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	651272	GGACTGTG others(6): Show GGACTGTGAGGTGT	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19065.hp2 NA18971.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0059 a0001c0001t0001g0062	2	91	0.0220	-13	c.177 others(32): Show c.1779-1679_1779-1667delTGTGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP76_chr18_12667625_12707723	12668597	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	380	0.0026	-13	c.47 others(24): Show c.4755_*4767delTTTTTTTTTTTTT	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		4027		chr18	TogoVar
CEP83_chr12_94302698_94464867	94343470	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18989.hp2 NA18965.hp1 NA18989.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0094 a0001c0003t0002g0130 a0001c0003t0001g0094 a0001c0003t0002g0130	2	364	0.0055	-13	c.134 others(32): Show c.1344-7819_1344-7807delAAAAAAAAAAAAA	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94449779	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG01106.hp1 others(26): Show HG00323.hp2 HG00408.hp2 HG01106.hp1 HG01981.hp1 HG02004.hp2 HG02602.hp2 HG02615.hp1 HG03239.hp2 HG03492.hp1 NA18940.hp2 NA18943.hp2 NA18949.hp1 NA18952.hp2 NA18955.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18974.hp1 NA18980.hp1 NA18994.hp1 NA19004.hp2 NA19011.hp1 NA19056.hp1 NA19064.hp2 NA19076.hp2 NA19078.hp1 NA19085.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0009 a0001c0001 a0001c0003 a0008c0009	a0001c0001t0004 a0001c0003t0002 a0008c0009t0004 a0001c0001t0004 a0001c0003t0002 a0008c0009t0004	a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 others(26): Show a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0003t0002g0056 a0001c0003t0002g0113 a0001c0003t0002g0114 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0118 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0130 a0001c0003t0002g0236 a0001c0003t0002g0237 a0001c0003t0002g0238 a0008c0009t0004g0332	29	364	0.0797	-13	c.-15 others(32): Show c.-155+9765_-155+9777delTTTTTTTTTTTTT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	1/16			chr12	TogoVar
CEP85L_chr6_118455772_118656591	118505409	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0011 a0007c0007t0011	a0007c0007t0011g0253 a0007c0007t0011g0253	1	302	0.0033	-13	c.125 others(32): Show c.1257+5876_1257+5888delTTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	5/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519564	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01433.hp1 HG01496.hp1 others(4): Show HG01175.hp1 HG01433.hp1 HG01496.hp1 HG02965.hp1 NA18973.hp2 NA18981.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0026 a0002c0002t0002 a0002c0002t0026	a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0221 others(4): Show a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0221 a0002c0002t0002g0240 a0002c0002t0002g0249 a0002c0002t0002g0280 a0002c0002t0026g0185	7	302	0.0232	-13	c.113 others(32): Show c.1139+4225_1139+4237delACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519566	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02280.hp2 HG03225.hp2 others(1): Show HG02074.hp2 HG02280.hp2 HG03225.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0027 a0002c0002t0030 a0002c0002t0002 a0002c0002t0027 a0002c0002t0030	a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0027g0186 others(1): Show a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0027g0186 a0002c0002t0030g0182	4	302	0.0133	-13	c.113 others(32): Show c.1139+4223_1139+4235delACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519568	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0011 a0007c0007t0011	a0007c0007t0011g0254 a0007c0007t0011g0254	1	302	0.0033	-13	c.113 others(32): Show c.1139+4221_1139+4233delACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118529608	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG00639.hp1 others(48): Show HG00280.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG02717.hp2 HG02723.hp1 HG03098.hp2 HG03490.hp2 HG03491.hp2 HG03927.hp1 HG04115.hp2 NA18522.hp2 NA18969.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18990.hp1 NA19007.hp1 NA19030.hp1 NA19062.hp2 NA19081.hp2 NA20300.hp2	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0011	a0003c0003 a0005c0005 a0010c0010 others(1): Show a0003c0003 a0005c0005 a0010c0010 a0011c0011	a0003c0003t0003 a0003c0003t0016 a0005c0005t0008 others(3): Show a0003c0003t0003 a0003c0003t0016 a0005c0005t0008 a0005c0005t0015 a0010c0010t0003 a0011c0011t0008	a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 others(48): Show a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0016g0011 a0005c0005t0008g0250 a0005c0005t0008g0251 a0005c0005t0008g0252 a0005c0005t0008g0286 a0005c0005t0008g0287 a0005c0005t0008g0295 a0005c0005t0008g0296 a0005c0005t0008g0297 a0005c0005t0008g0298 a0005c0005t0015g0300 a0005c0005t0015g0301 a0010c0010t0003g0015 a0011c0011t0008g0294	51	302	0.1689	-13	c.102 others(32): Show c.1021-5701_1021-5689delTTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600294	CCTGGGGG others(6): Show CCTGGGGGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02004.hp2 HG02451.hp1 others(4): Show HG01361.hp1 HG02004.hp2 HG02451.hp1 HG04204.hp1 NA18969.hp2 NA18978.hp2 NA18990.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0007c0007 a0008c0013 a0001c0001 a0007c0007 a0008c0013	a0001c0001t0001 a0007c0007t0011 a0008c0013t0001 a0001c0001t0001 a0007c0007t0011 a0008c0013t0001	a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0124 others(4): Show a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0158 a0001c0001t0001g0168 a0007c0007t0011g0256 a0008c0013t0001g0071	7	302	0.0232	-13	c.232 others(32): Show c.232+32146_232+32158delCACACACCCCCAG	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26250925	CTTTTTTC others(6): Show CTTTTTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA19062.hp1 HG00323.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0153 a0001c0001t0003g0107 a0001c0001t0003g0153	2	342	0.0059	-13	c.209 others(30): Show c.209-4239_209-4227delCTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP95_chr17_64501977_64542946	64507480	GCTTTTGT others(6): Show GCTTTTGTATTGGT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	248	0.0040	-13	c.19+ others(26): Show c.19+369_19+381delTGTATTGGTCTTT	CEP95	ENSG00000258890.8	transcript	ENST00000556440.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CERCAM_chr9_128415857_128442347	128418581	TTTTTTGT others(6): Show TTTTTTGTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	400	0.0025	-13	c.-22 others(24): Show c.-2296_-2284delTTTTTGTTTTTTG	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		2275		chr9	TogoVar
CERKL_chr2_181531672_181662105	181536269	CATTCTTC others(6): Show CATTCTTCCTATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	298	0.0034	-13	c.19 others(24): Show c.1902_*1914delAGATAGGAAGAAT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding		402		chr2	TogoVar
CERKL_chr2_181531672_181662105	181585719	TTCTAAAT others(6): Show TTCTAAATTAAAAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0140 a0001c0002t0003g0140	1	298	0.0034	-13	c.482 others(32): Show c.482-11848_482-11836delGTTTTAATTTAGA	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	2/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181595371	CTGCTTCA others(6): Show CTGCTTCAAGAGTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00597.hp1 others(66): Show HG00323.hp2 HG00408.hp1 HG00597.hp1 HG00673.hp2 HG01074.hp1 HG01168.hp1 HG01175.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18944.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18971.hp1 NA18983.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19078.hp2 NA19082.hp1 NA19086.hp2 NA20300.hp1 NA21309.hp2	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0010 others(7): Show a0001c0001 a0001c0002 a0001c0010 a0001c0014 a0004c0007 a0005c0008 a0006c0012 a0007c0015 a0008c0017 a0009c0013	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0025 a0001c0010t0001 a0001c0014t0001 a0004c0007t0008 a0005c0008t0001 a0006c0012t0001 a0007c0015t0001 a0008c0017t0001 a0009c0013t0001	a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 others(66): Show a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0003g0187 a0001c0002t0001g0037 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0132 a0001c0002t0002g0012 a0001c0002t0002g0127 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0025g0019 a0001c0010t0001g0007 a0001c0014t0001g0055 a0004c0007t0008g0069 a0005c0008t0001g0016 a0005c0008t0001g0017 a0006c0012t0001g0009 a0007c0015t0001g0053 a0008c0017t0001g0285 a0009c0013t0001g0047	69	298	0.2315	-13	c.481 others(30): Show c.481+8453_481+8465delAACTCTTGAAGCA	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	2/12			chr2	TogoVar
CERS1_chr19_18863545_18901158	18864733	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18952.hp2 NA19005.hp1 others(2): Show NA18940.hp2 NA18952.hp2 NA19005.hp1 NA19056.hp2 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0249 a0001c0002t0003g0260 a0001c0002t0003g0008 a0001c0002t0003g0249 a0001c0002t0003g0260	5	380	0.0132	-13	c.52 others(24): Show c.5239_*5251delAAAAAAAAAAAAA	CERS1	ENSG00000223802.9	transcript	ENST00000623882.4	protein_coding		3811		chr19	TogoVar
CERS3_chr15_100395395_100533950	100446489	TTGCCAAC others(6): Show TTGCCAACTCTTCA	T T	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp2 NA18991.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0189 a0001c0001t0003g0156 a0001c0001t0001g0189 a0001c0001t0003g0156	2	362	0.0055	-13	c.999 others(30): Show c.999+9391_999+9403delTGAAGAGTTGGCA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	11/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8229404	CTTCTTTC others(6): Show CTTCTTTCTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(151): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0003 a0003c0004 a0003c0007 a0004c0005 a0004c0009 a0004c0018 a0005c0011 a0007c0022 a0009c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(29): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0006t0005 a0001c0006t0006 a0001c0008t0001 a0001c0008t0003 a0001c0008t0004 a0002c0003t0001 a0002c0003t0004 a0002c0003t0008 a0003c0004t0001 a0003c0004t0004 a0003c0004t0009 a0003c0007t0004 a0003c0007t0009 a0004c0005t0007 a0004c0005t0008 a0004c0005t0011 a0004c0009t0007 a0004c0018t0007 a0005c0011t0007 a0007c0022t0004 a0009c0017t0003	a0001c0001t0002g0142 a0001c0001t0002g0218 a0001c0001t0002g0219 others(151): Show a0001c0001t0002g0142 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0289 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0338 a0001c0001t0002g0364 a0001c0001t0002g0378 a0001c0001t0003g0005 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0122 a0001c0001t0003g0133 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0191 a0001c0001t0003g0197 a0001c0001t0003g0313 a0001c0001t0003g0397 a0001c0001t0006g0220 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0379 a0001c0001t0007g0121 a0001c0001t0007g0383 a0001c0001t0008g0398 a0001c0001t0012g0288 a0001c0002t0001g0158 a0001c0002t0001g0163 a0001c0002t0001g0176 a0001c0002t0001g0208 a0001c0002t0001g0396 a0001c0002t0002g0123 a0001c0002t0002g0253 a0001c0002t0004g0004 a0001c0002t0004g0231 a0001c0002t0004g0311 a0001c0002t0004g0323 a0001c0002t0004g0335 a0001c0002t0005g0199 a0001c0002t0005g0200 a0001c0002t0006g0310 a0001c0002t0006g0322 a0001c0002t0006g0324 a0001c0002t0006g0386 a0001c0006t0005g0155 a0001c0006t0005g0180 a0001c0006t0005g0190 a0001c0006t0005g0193 a0001c0006t0005g0194 a0001c0006t0005g0195 a0001c0006t0005g0198 a0001c0006t0005g0207 a0001c0006t0006g0232 a0001c0006t0006g0274 a0001c0006t0006g0305 a0001c0008t0001g0188 a0001c0008t0003g0250 a0001c0008t0004g0282 a0002c0003t0001g0157 a0002c0003t0001g0164 a0002c0003t0001g0166 a0002c0003t0001g0175 a0002c0003t0001g0185 a0002c0003t0004g0213 a0002c0003t0004g0227 a0002c0003t0004g0229 a0002c0003t0004g0249 a0002c0003t0004g0273 a0002c0003t0004g0276 a0002c0003t0004g0304 a0002c0003t0004g0308 a0002c0003t0004g0309 a0002c0003t0004g0319 a0002c0003t0004g0331 a0002c0003t0004g0332 a0002c0003t0004g0382 a0002c0003t0008g0395 a0003c0004t0001g0150 a0003c0004t0001g0151 a0003c0004t0001g0165 a0003c0004t0001g0167 a0003c0004t0001g0182 a0003c0004t0001g0201 a0003c0004t0004g0272 a0003c0004t0004g0275 a0003c0004t0004g0277 a0003c0004t0004g0278 a0003c0004t0004g0328 a0003c0004t0009g0334 a0003c0007t0004g0283 a0003c0007t0004g0299 a0003c0007t0004g0300 a0003c0007t0004g0317 a0003c0007t0009g0120 a0004c0005t0007g0002 a0004c0005t0007g0124 a0004c0005t0007g0217 a0004c0005t0007g0287 a0004c0005t0007g0290 a0004c0005t0007g0292 a0004c0005t0007g0384 a0004c0005t0008g0053 a0004c0005t0008g0192 a0004c0005t0008g0251 a0004c0005t0008g0394 a0004c0005t0011g0307 a0004c0005t0011g0320 a0004c0009t0007g0285 a0004c0009t0007g0291 a0004c0018t0007g0325 a0005c0011t0007g0284 a0005c0011t0007g0286 a0007c0022t0004g0224 a0009c0017t0003g0162	154	418	0.3684	-13	c.-2+ others(30): Show c.-2+18545_-2+18557delCTTTCTTCTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8232889	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0008 a0001c0001t0010g0008	1	418	0.0024	-13	c.-1- others(30): Show c.-1-18173_-1-18161delTTTTTTTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8243194	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG03130.hp2 HG02109.hp2 HG02717.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008	a0001c0001t0003g0391 a0001c0001t0007g0121 a0001c0001t0008g0390 a0001c0001t0003g0391 a0001c0001t0007g0121 a0001c0001t0008g0390	3	418	0.0072	-13	c.-1- others(28): Show c.-1-7865_-1-7853delAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8265762	TTGGGAGG others(6): Show TTGGGAGGTCGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0371 a0001c0001t0002g0371	1	418	0.0024	-13	c.36 others(24): Show c.3654_*3666delTGGGAGGTCGAAG	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		3342		chr19	TogoVar
CERS4_chr19_8204370_8267421	8266863	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0003 a0002c0023t0003	a0002c0023t0003g0009 a0002c0023t0003g0009	1	418	0.0024	-13	c.47 others(24): Show c.4755_*4767delAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4443		chr19	TogoVar
CERS6_chr2_168451272_168780134	168484167	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19030.hp2 HG02922.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0175 a0001c0001t0013g0174 a0001c0001t0001g0175 a0001c0001t0013g0174	2	176	0.0114	-13	c.170 others(32): Show c.170+27568_170+27580delTTTTTTTTTTTTT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168514428	TAGGGCCA others(6): Show TAGGGCCAAGAAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp2 HG01255.hp1 others(25): Show HG00735.hp1 HG01074.hp2 HG01255.hp1 HG02071.hp2 HG02109.hp2 HG02258.hp2 HG02523.hp2 HG02630.hp2 HG02809.hp2 HG02896.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03516.hp2 HG03579.hp2 NA18945.hp1 NA18949.hp2 NA18957.hp1 NA18968.hp2 NA18984.hp2 NA19000.hp1 NA19009.hp2 NA19070.hp1 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 others(25): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0057 a0001c0001t0002g0114 a0001c0001t0002g0131 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0005g0043 a0001c0001t0006g0116 a0001c0001t0007g0119 a0001c0001t0008g0172 a0001c0001t0009g0002 a0001c0001t0009g0171 a0001c0001t0011g0042 a0001c0001t0011g0069 a0001c0001t0017g0162 a0001c0001t0019g0163 a0001c0001t0026g0152 a0001c0001t0027g0122 a0001c0001t0030g0068 a0001c0001t0035g0156 a0001c0001t0036g0149 a0001c0001t0038g0115	28	176	0.1591	-13	c.171 others(32): Show c.171-33164_171-33152delGCCAAGAAAAAGG	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168556991	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp2 HG01261.hp1 others(24): Show HG01099.hp2 HG01256.hp2 HG01261.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02896.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp2 NA18906.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033	a0001c0001t0001g0035 a0001c0001t0001g0120 a0001c0001t0002g0016 others(24): Show a0001c0001t0001g0035 a0001c0001t0001g0120 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0036 a0001c0001t0004g0014 a0001c0001t0005g0117 a0001c0001t0006g0059 a0001c0001t0006g0169 a0001c0001t0007g0013 a0001c0001t0008g0040 a0001c0001t0008g0165 a0001c0001t0009g0039 a0001c0001t0009g0041 a0001c0001t0010g0004 a0001c0001t0010g0015 a0001c0001t0010g0065 a0001c0001t0010g0166 a0001c0001t0010g0167 a0001c0001t0011g0011 a0001c0001t0011g0080 a0001c0001t0011g0081 a0001c0001t0011g0082 a0001c0001t0014g0176 a0001c0001t0030g0068 a0001c0001t0032g0168 a0001c0001t0033g0038	27	176	0.1534	-13	c.277 others(30): Show c.277-4183_277-4171delAAAAAAAAAAAAA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75447854	TAGCCTCA others(6): Show TAGCCTCAAACTCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0015 a0001c0002t0018g0015	1	336	0.0030	-13	c.348 others(32): Show c.348+11198_348+11210delGGAGTTTGAGGCT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	3/16			chr5	TogoVar
CES5A_chr16_55841154_55880373	55878599	CCACTGCA others(6): Show CCACTGCACCCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0290 a0002c0003t0001g0290	1	449	0.0022	-13	c.-33 others(24): Show c.-3391_-3379delATGGGGTGCAGTG	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding		3227		chr16	TogoVar
CETN3_chr5_90387257_90414756	90406843	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG03098.hp2 others(3): Show HG01884.hp2 HG02615.hp1 HG03098.hp2 HG03471.hp2 HG03540.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0009 a0002c0002t0001 a0001c0001t0002 a0001c0001t0009 a0002c0002t0001	a0001c0001t0002g0025 a0001c0001t0002g0089 a0001c0001t0009g0094 others(1): Show a0001c0001t0002g0025 a0001c0001t0002g0089 a0001c0001t0009g0094 a0002c0002t0001g0045	6	348	0.0172	-13	c.153 others(28): Show c.153+843_153+855delGTTTTTTTTTTTT	CETN3	ENSG00000153140.9	transcript	ENST00000283122.8	protein_coding	2/4			chr5	TogoVar
CETP_chr16_56956950_56988845	56958036	GAAAAGAA others(6): Show GAAAAGAAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 NA18522.hp1 HG03209.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0281 a0002c0002t0002g0282	2	462	0.0043	-13	c.-39 others(24): Show c.-3943_-3931delAAAAGAAAAGAAA	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding		3913		chr16	TogoVar
CETP_chr16_56956950_56988845	56959935	GAAGGAAA others(6): Show GAAGGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	462	0.0022	-13	c.-20 others(24): Show c.-2044_-2032delAAGGAAAGAAAGA	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding		2014		chr16	TogoVar
CFAP141_chr1_154194085_154211333	154203171	AAATATAT others(6): Show AAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	372	0.0027	-13	c.74+ others(28): Show c.74+2414_74+2426delATATATATATATT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP161_chr15_81129270_81154179	81133214	TATATATA others(6): Show TATATATATATGTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG02922.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0085 a0001c0001t0002g0071 a0001c0001t0002g0085	2	448	0.0045	-13	c.-11 others(24): Show c.-1115_-1103delATATATATATGTA	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1055		chr15	TogoVar
CFAP161_chr15_81129270_81154179	81133217	ATATATAT others(6): Show ATATATATGTATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	448	0.0022	-13	c.-11 others(24): Show c.-1112_-1100delTATATATGTATTT	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1052		chr15	TogoVar
CFAP161_chr15_81129270_81154179	81146832	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	448	0.0022	-13	c.637 others(30): Show c.637-1025_637-1013delTATATATATATAT	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding	5/6			chr15	TogoVar
CFAP20DC_chr3_58737008_59055025	58789340	ATTTAATT others(6): Show ATTTAATTTAGTGC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02895.hp2 HG02896.hp2 others(2): Show HG02486.hp1 HG02895.hp2 HG02896.hp2 NA18906.hp2 NA19030.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0010c0015 a0002c0003 a0010c0015	a0002c0003t0001 a0010c0015t0001 a0002c0003t0001 a0010c0015t0001	a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0167 others(2): Show a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0168 a0010c0015t0001g0164	5	204	0.0245	-13	c.223 others(34): Show c.2237+17042_2237+17054delGCACTAAATTAAA	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP20_chr16_58108592_58134381	58123595	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00544.hp2 others(88): Show HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01169.hp1 HG01192.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02155.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG03098.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18993.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19070.hp2 NA19079.hp2 NA19082.hp2 NA19088.hp1 NA19091.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0002g0174 a0001c0001t0007g0057 a0001c0001t0008g0069	91	400	0.2275	-13	c.84+ others(28): Show c.84+5424_84+5436delTTTTTTTTTTTTT	CFAP20	ENSG00000070761.8	transcript	ENST00000262498.8	protein_coding	1/5			chr16	TogoVar
CFAP210_chr2_169640425_169699405	169648162	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	390	0.0026	-13	c.131 others(32): Show c.1317+1007_1317+1019delTTTTTTTTTTTTT	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	8/8			chr2	TogoVar
CFAP210_chr2_169640425_169699405	169653026	AAAAATAT others(6): Show AAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0257 a0007c0009t0001g0257	1	390	0.0026	-13	c.959 others(30): Show c.959+1036_959+1048delATATATATATTTT	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar
CFAP210_chr2_169640425_169699405	169653028	AAATATAT others(6): Show AAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02809.hp2 others(7): Show HG01884.hp1 HG02559.hp1 HG02809.hp2 HG02922.hp1 HG03130.hp1 HG03225.hp2 HG03491.hp2 NA18995.hp1 NA19074.hp2 NA19240.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0003c0003 a0007c0009 a0002c0002 a0003c0003 a0007c0009	a0002c0002t0002 a0003c0003t0002 a0007c0009t0001 a0002c0002t0002 a0003c0003t0002 a0007c0009t0001	a0002c0002t0002g0074 a0002c0002t0002g0086 a0002c0002t0002g0087 others(5): Show a0002c0002t0002g0074 a0002c0002t0002g0086 a0002c0002t0002g0087 a0003c0003t0002g0002 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0047 a0007c0009t0001g0256	10	390	0.0256	-13	c.959 others(30): Show c.959+1034_959+1046delATATATATATATT	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar
CFAP210_chr2_169640425_169699405	169653030	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG02071.hp1 others(3): Show HG00280.hp1 HG00609.hp2 HG02071.hp1 HG03239.hp2 NA18991.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 a0001c0001t0001 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0283 a0001c0001t0001g0294 a0002c0002t0002g0070 others(3): Show a0001c0001t0001g0283 a0001c0001t0001g0294 a0002c0002t0002g0070 a0002c0002t0002g0072 a0003c0003t0002g0039 a0003c0003t0002g0040	6	390	0.0154	-13	c.959 others(30): Show c.959+1032_959+1044delATATATATATATA	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar
CFAP221_chr2_119539449_119661661	119542898	TACTAAAA others(6): Show TACTAAAAATGCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02109.hp1 HG02109.hp2 others(3): Show HG00735.hp1 HG02109.hp1 HG02109.hp2 HG02451.hp2 HG03225.hp1 NA19043.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0003 a0003c0003t0002 a0002c0002t0002 a0002c0002t0003 a0003c0003t0002	a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 others(3): Show a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0003g0155 a0002c0002t0003g0159 a0003c0003t0002g0043	6	226	0.0266	-13	c.-16 others(24): Show c.-1659_-1647delACTAAAAATGCAA	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding		1550		chr2	TogoVar
CFAP251_chr12_121913592_122008919	121952240	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02293.hp2 NA18986.hp1 HG01515.hp1 HG02293.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0021t0001 a0001c0001t0001 a0001c0021t0001	a0001c0001t0001g0131 a0001c0001t0001g0162 a0001c0021t0001g0202 a0001c0001t0001g0131 a0001c0001t0001g0162 a0001c0021t0001g0202	3	354	0.0085	-13	c.132 others(30): Show c.1320+729_1320+741delAAAAAAAAAAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121998940	CATCCTTG others(6): Show CATCCTTGTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18906.hp1 HG02723.hp2 NA18906.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0219 a0005c0005t0001g0220 a0005c0005t0001g0219 a0005c0005t0001g0220	2	354	0.0057	-13	c.300 others(30): Show c.3007-775_3007-763delATCCTTGTCTTTT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21			chr12	TogoVar
CFAP298_chr21_32594354_32617377	32614244	CTTTTCTT others(6): Show CTTTTCTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG02976.hp2 HG02809.hp1 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0187 a0001c0001t0008g0188 a0001c0001t0008g0196 a0001c0001t0008g0187 a0001c0001t0008g0188 a0001c0001t0008g0196	3	416	0.0072	-13	c.-20 others(24): Show c.-2014_-2002delAAAAAAAAGAAAA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding		1868		chr21	TogoVar

Search by Variant

Search

Search Results