Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BMPR1A_chr10_86751619_86932969	86791687	T T	TCCTCCCT others(45): Show TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0067 a0002c0001t0067	a0002c0001t0067g0165 a0002c0001t0067g0165	1	278	0.0036	52	c.-26 others(73): Show c.-268+34791_-268+34792insTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86791707	C C	CCCTTCCT others(45): Show CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0056 a0001c0003t0056	a0001c0003t0056g0252 a0001c0003t0056g0252	1	278	0.0036	52	c.-26 others(73): Show c.-268+34791_-268+34792insTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTTCCT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(45): Show CACACACACACACACACATATATATATATATATATATATATATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0170 a0001c0002t0010g0170	1	278	0.0036	52	c.75 others(63): Show c.7579_*7580insACACACACACACACACATATATATATATATATAT ATATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(45): Show CACACACACACACACATATATATATATATATATATATATATATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 NA18969.hp1 HG02647.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0033 a0001c0002t0007 a0001c0002t0033	a0001c0002t0007g0031 a0001c0002t0033g0270 a0001c0002t0007g0031 a0001c0002t0033g0270	2	278	0.0072	52	c.75 others(63): Show c.7579_*7580insACACACACACACACATATATATATATATATATAT ATATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(45): Show CACACACACACACATATATATATATATATATATATATATATATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0135 a0001c0002t0007g0135	1	278	0.0036	52	c.75 others(63): Show c.7579_*7580insACACACACACACATATATATATATATATATATAT ATATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(45): Show CACACACACACATATATATATATATATATATATATATATATATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 NA18949.hp1 HG01928.hp2 NA18949.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0046 a0002c0001t0005 a0001c0002t0046 a0002c0001t0005	a0001c0002t0046g0062 a0002c0001t0005g0205 a0001c0002t0046g0062 a0002c0001t0005g0205	2	278	0.0072	52	c.75 others(63): Show c.7579_*7580insACACACACACATATATATATATATATATATATAT ATATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(45): Show CACACACACATATATATATATATATATATATATATATATATATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA18966.hp1 NA18972.hp1 HG03471.hp2 NA18966.hp1 NA18972.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0001c0002t0025 a0002c0001t0005 a0001c0002t0003 a0001c0002t0025 a0002c0001t0005	a0001c0002t0003g0075 a0001c0002t0025g0029 a0002c0001t0005g0207 a0001c0002t0003g0075 a0001c0002t0025g0029 a0002c0001t0005g0207	3	278	0.0108	52	c.75 others(63): Show c.7579_*7580insACACACACATATATATATATATATATATATATAT ATATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(45): Show CACACACATATATATATATATATATATATATATATATATATATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0065 a0001c0002t0003g0065	1	278	0.0036	52	c.75 others(63): Show c.7579_*7580insACACACATATATATATATATATATATATATATAT ATATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(45): Show ATATATATATATATATATACCCATGGGTATATATATATATATATACCCAT GGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG01192.hp1 HG01243.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0178 a0001c0006t0001g0201 a0001c0006t0001g0178 a0001c0006t0001g0201	2	386	0.0052	52	c.-81 others(71): Show c.-81-13420_-81-13419insCCCATGGGTATATATATATATATATA CCCATGGGTATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236290	A A	ATATATAT others(45): Show ATATATATATATATACCCATGGGTATATATATATATATATATATACCCAT GGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0282 a0001c0008t0004g0282	1	386	0.0026	52	c.-81 others(71): Show c.-81-13418_-81-13417insCCCATGGGTATATATATATATATATA TATACCCATGGGTATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BPIFB1_chr20_33278214_33314871	33295645	G G	GAAGAAAG others(45): Show GAAGAAAGAAAGACAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03041.hp2 NA18906.hp2 HG01243.hp2 HG03041.hp2 NA18906.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0128 a0005c0005t0001g0129 a0005c0005t0001g0130 a0005c0005t0001g0128 a0005c0005t0001g0129 a0005c0005t0001g0130	3	388	0.0077	52	c.598 others(69): Show c.598-1868_598-1867insCAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA	BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(45): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	364	0.0028	52	c.748 others(69): Show c.748-1912_748-1911insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(45): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0181 a0001c0001t0121g0181	1	265	0.0038	52	c.283 others(69): Show c.2836-370_2836-369insATATATATATATATATATATATATATAT ATATATATATATATATATATATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BSG_chr19_567596_588493	570681	G G	GGGAGGGG others(45): Show GGGAGGGGCGGAGGGGTGAGTGGGGGAGGGGTGGAGGGGTGGGTGGAAGG GGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	306	0.0033	52	c.-19 others(63): Show c.-1954_-1953insGGAGGGGCGGAGGGGTGAGTGGGGGAGGGGTGGA GGGGTGGGTGGAAGGGGC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1914		chr19	TogoVar
BTAF1_chr10_91918770_92036437	91991265	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	330	0.0030	52	c.285 others(69): Show c.2855-849_2855-848insTATATATATATATATATATATATATATA TATATATATATATATATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD19_chr1_44803523_44820585	44816569	T T	TATATACA others(45): Show TATATACACATAGATGTGTGTATATATTATATATACACATAGATGTGTGT GTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19085.hp1 NA19076.hp1 NA19085.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0056 a0007c0009t0058 a0001c0001t0056 a0007c0009t0058	a0001c0001t0056g0001 a0007c0009t0058g0070 a0001c0001t0056g0001 a0007c0009t0058g0070	2	436	0.0046	52	c.27 others(63): Show c.2797_*2798insATATACACATAGATGTGTGTATATATTATATATA CACATAGATGTGTGTGTA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		985		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816569	T T	TATATACA others(45): Show TATATACACATAGATGTGTGTATATATTATATATATACATAGATGTGTGT GTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(54): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00609.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG01099.hp1 HG01256.hp1 HG01358.hp2 HG01361.hp1 HG01934.hp1 HG01975.hp1 HG02055.hp2 HG02129.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02723.hp1 HG02922.hp1 HG03654.hp1 HG03834.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp1 NA18968.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp2 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA19011.hp1 NA19055.hp2 NA19068.hp2 NA19074.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0037 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0001t0065 a0001c0001t0083 a0002c0012t0004	a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0020 others(27): Show a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0077 a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0004g0013 a0001c0001t0004g0024 a0001c0001t0005g0001 a0001c0001t0005g0010 a0001c0001t0005g0013 a0001c0001t0006g0001 a0001c0001t0006g0020 a0001c0001t0006g0026 a0001c0001t0006g0036 a0001c0001t0006g0076 a0001c0001t0019g0001 a0001c0001t0019g0010 a0001c0001t0024g0001 a0001c0001t0024g0026 a0001c0001t0025g0001 a0001c0001t0037g0010 a0001c0001t0054g0001 a0001c0001t0055g0001 a0001c0001t0059g0001 a0001c0001t0061g0001 a0001c0001t0063g0001 a0001c0001t0065g0073 a0001c0001t0083g0001 a0002c0012t0004g0078	57	436	0.1307	52	c.27 others(63): Show c.2797_*2798insATATACACATAGATGTGTGTATATATTATATATA TACATAGATGTGTGTGTA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		985		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816569	T T	TTATATAT others(45): Show TTATATATATACATAGATGTGTGTGTATATATATACACATAGATGTGTGT GTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA19058.hp1 NA18988.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0010 a0001c0001t0004g0010 a0001c0001t0003g0010 a0001c0001t0004g0010	2	436	0.0046	52	c.27 others(63): Show c.2797_*2798insTATATATATACATAGATGTGTGTGTATATATATA CACATAGATGTGTGTGTA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		985		chr1	TogoVar
BTBD9_chr6_38163451_38644929	38374303	A A	ATATATAT others(45): Show ATATATATATGTGTATATATATATATATATATATATATGTATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18964.hp1 HG01978.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0071 a0001c0001t0016 a0001c0001t0071	a0001c0001t0016g0069 a0001c0001t0071g0165 a0001c0001t0016g0069 a0001c0001t0071g0165	2	224	0.0089	52	c.115 others(73): Show c.1155-29211_1155-29210insCATATATATATATACATATATATA TATATATATATATATACACATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38374305	A A	ATATATAT others(45): Show ATATATATATGTGTATATATATATATATATATATATATGTATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0163 a0001c0001t0018g0163	1	224	0.0045	52	c.115 others(73): Show c.1155-29213_1155-29212insCATATATATATATACATATATATA TATATATATATATATACACATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
C11orf24_chr11_68256338_68276973	68264542	C C	CCATCCAC others(45): Show CCATCCACCCACCCACCCATCCATCCACCCACCCACCCATCCATCTACCT ACT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(224): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18988.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19063.hp2 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0012	a0002c0001 a0003c0003 a0003c0004 others(3): Show a0002c0001 a0003c0003 a0003c0004 a0004c0006 a0006c0013 a0012c0015	a0002c0001t0001 a0002c0001t0008 a0003c0003t0001 others(6): Show a0002c0001t0001 a0002c0001t0008 a0003c0003t0001 a0003c0003t0002 a0003c0003t0007 a0003c0004t0001 a0004c0006t0001 a0006c0013t0001 a0012c0015t0001	a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0010 others(67): Show a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0010 a0002c0001t0001g0013 a0002c0001t0001g0015 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0034 a0002c0001t0001g0035 a0002c0001t0001g0040 a0002c0001t0001g0041 a0002c0001t0001g0050 a0002c0001t0001g0054 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0087 a0002c0001t0001g0112 a0002c0001t0008g0127 a0003c0003t0001g0006 a0003c0003t0001g0012 a0003c0003t0001g0014 a0003c0003t0001g0018 a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0047 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0061 a0003c0003t0001g0078 a0003c0003t0001g0092 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0002g0011 a0003c0003t0002g0031 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0007g0060 a0003c0004t0001g0007 a0003c0004t0001g0122 a0003c0004t0001g0123 a0003c0004t0001g0124 a0003c0004t0001g0125 a0004c0006t0001g0064 a0004c0006t0001g0088 a0006c0013t0001g0055 a0012c0015t0001g0067	227	400	0.5675	52	c.-99 others(67): Show c.-99-677_-99-676insAGTAGGTAGATGGATGGGTGGGTGGGTGGA TGGATGGGTGGGTGGGTGGATG	C11orf24	ENSG00000171067.11	transcript	ENST00000304271.11	protein_coding	2/3			chr11	TogoVar
C11orf24_chr11_68256338_68276973	68264542	C C	CCATCCAC others(45): Show CCATCCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCTACCT ACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(164): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0007 a0008 a0009 a0010 a0011	a0001c0002 a0001c0005 a0001c0008 others(7): Show a0001c0002 a0001c0005 a0001c0008 a0003c0003 a0005c0010 a0007c0012 a0008c0014 a0009c0007 a0010c0011 a0011c0009	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(10): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0005t0001 a0001c0008t0001 a0003c0003t0001 a0005c0010t0001 a0007c0012t0001 a0008c0014t0001 a0009c0007t0001 a0010c0011t0001 a0011c0009t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 others(49): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0017 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0003g0048 a0001c0002t0004g0107 a0001c0002t0006g0111 a0001c0005t0001g0008 a0001c0005t0001g0108 a0001c0008t0001g0098 a0003c0003t0001g0016 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0039 a0003c0003t0001g0049 a0003c0003t0001g0079 a0005c0010t0001g0099 a0007c0012t0001g0093 a0008c0014t0001g0080 a0009c0007t0001g0100 a0010c0011t0001g0126 a0011c0009t0001g0095	167	400	0.4175	52	c.-99 others(67): Show c.-99-677_-99-676insAGTAGGTAGATGGATGGGTGGGTGGATGGA TGGATGGGTGGGTGGGTGGATG	C11orf24	ENSG00000171067.11	transcript	ENST00000304271.11	protein_coding	2/3			chr11	TogoVar
C12orf40_chr12_39621183_39726914	39653585	C C	CTTCTTCT others(45): Show CTTCTTCTTCTTCTTCTTCTTTTTCTTCTTCTTCTTCTTTCCTCTTCTTC TTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	360	0.0028	52	c.686 others(69): Show c.686+3237_686+3238insTTCTTCTTCTTCTTTTTCTTCTTCTTCT TCTTTCCTCTTCTTCTTTTTCTTC	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39712029	C C	CATGTATA others(45): Show CATGTATATATACCTACCTGTATGTATATATACATGTATATATACCTACC TGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02622.hp2 others(3): Show HG01884.hp2 HG02055.hp2 HG02622.hp2 HG02896.hp2 HG02965.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042	6	360	0.0167	52	c.141 others(71): Show c.1412-4682_1412-4681insTACCTGTATGTATATATACCTACCTG TATGTATATATACATGTATATATACC	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39713227	T T	TATACGTG others(45): Show TATACGTGTATATATGTGTACACACACATACGTGTATATATGTGTACACA CAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG00733.hp2 others(8): Show HG00438.hp2 HG00673.hp2 HG00733.hp2 HG01255.hp2 HG02970.hp1 HG03130.hp1 HG03209.hp1 HG04228.hp2 NA18955.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0244 a0001c0001t0001g0251 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0294 a0001c0001t0001g0310	11	360	0.0306	52	c.141 others(71): Show c.1412-3483_1412-3432dupCACACACATACGTGTATATATGTGTA CACACACATACGTGTATATATGTGTA	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39713305	C C	CATACGTG others(45): Show CATACGTGTATATATGTGTACACACACATACGTGTATATATGTGTACACA CAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03831.hp1 NA18965.hp2 others(1): Show HG00438.hp1 HG03831.hp1 NA18965.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 others(1): Show a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287	4	360	0.0111	52	c.141 others(71): Show c.1412-3432_1412-3431insCACACACATACGTGTATATATGTGTA CACACATATACGTGTATATATGTGTA	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39713305	C C	CATACGTG others(45): Show CATACGTGTATATATGTGTACACACACATACGTGTATATATGTGTATACA CAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	360	0.0028	52	c.141 others(71): Show c.1412-3432_1412-3431insCACACACATACGTGTATATATGTGTA TACACATATACGTGTATATATGTGTA	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39714270	T T	TATATATG others(45): Show TATATATGTATATACGTATATACATGCATATATGTATATACGTATATACA TGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	360	0.0028	52	c.141 others(71): Show c.1412-2466_1412-2465insACATGCATATATGTATATACGTATAT ACATGCATATATGTATATACGTATAT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39714270	T T	TTTATATG others(45): Show TTTATATGTATATACGTATATACATGCATATATGTATATACGTATATACA TGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp1 HG01106.hp2 others(1): Show HG00099.hp1 HG01070.hp1 HG01106.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0069 a0001c0001t0004g0055 a0001c0001t0004g0059 others(1): Show a0001c0001t0001g0069 a0001c0001t0004g0055 a0001c0001t0004g0059 a0001c0001t0004g0060	4	360	0.0111	52	c.141 others(71): Show c.1412-2486_1412-2485insTTATATGTATATACGTATATACATGC ATATATGTATATACGTATATACATGC	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64367180	T T	TTATATAT others(45): Show TTATATATAACATACAGATTATATATTATATATAATATACAGTTTATATA TTA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG06807.hp2 HG03017.hp2 HG06807.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0003 a0002c0002t0001 a0003c0004t0003	a0002c0002t0001g0221 a0003c0004t0003g0245 a0002c0002t0001g0221 a0003c0004t0003g0245	2	312	0.0064	52	c.253 others(71): Show c.253-14125_253-14124insTAATATATAAACTGTATATTATATAT AATATATAATCTGTATGTTATATATA	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64367180	T T	TTATATAT others(45): Show TTATATATAATATACAGATTATATATTATATATAATATACAGTTTATATA TTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0229 a0001c0003t0001g0229	1	312	0.0032	52	c.253 others(71): Show c.253-14125_253-14124insTAATATATAAACTGTATATTATATAT AATATATAATCTGTATATTATATATA	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C16orf89_chr16_5039122_5070956	5057267	C C	CATATATA others(45): Show CATATATATATGTATATATATATGTGTATATATATATGTATATATATATG TGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG02622.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0314 a0001c0002t0006g0315 a0001c0001t0001g0314 a0001c0002t0006g0315	2	432	0.0046	52	c.628 others(69): Show c.628-1080_628-1079insACACATATATATATACATATATATATAC ACATATATATATACATATATATAT	C16orf89	ENSG00000153446.16	transcript	ENST00000472572.8	protein_coding	4/7			chr16	TogoVar
C18orf63_chr18_74310839_74364189	74361907	T T	TATATACG others(45): Show TATATACGTATAATATAATTTATATTATATATGCATATATAATATAATTT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01952.hp1 HG02055.hp1 others(7): Show HG01884.hp1 HG01952.hp1 HG02055.hp1 HG02451.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG03225.hp1 HG06807.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0009 a0004c0004t0021 a0004c0004t0003 a0004c0004t0009 a0004c0004t0021	a0004c0004t0003g0006 a0004c0004t0003g0036 a0004c0004t0003g0101 others(3): Show a0004c0004t0003g0006 a0004c0004t0003g0036 a0004c0004t0003g0101 a0004c0004t0009g0006 a0004c0004t0009g0035 a0004c0004t0021g0006	10	372	0.0269	52	c.54 others(63): Show c.5460_*5461insATATACGTATAATATAATTTATATTATATATGCA TATATAATATAATTTATA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2719		chr18	TogoVar
C1QTNF9_chr13_24304580_24327531	24309283	T T	TTATATAT others(45): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	466	0.0022	52	c.-35 others(61): Show c.-356_-355insTATATATATATATATATATATATATATATATATATA TATATATATATATATA	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		296		chr13	TogoVar
C1orf21_chr1_184382029_184634019	184386789	C C	CCACACAC others(45): Show CCACACACACACACACACACACACACACACACACACACACACACACACAC ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0164 a0001c0001t0064g0164	1	232	0.0043	52	c.-70 others(61): Show c.-704_-703insCACACACACACACACACACACACACACACACACACA CACACACACACACACA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding		239		chr1	TogoVar
C1orf87_chr1_59985394_60078770	60064774	A A	AATATATA others(45): Show AATATATAAATATATAATTATATTTAATATATAAATATATAATTATATTT AAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp1 HG02559.hp2 HG01167.hp2 HG02055.hp1 HG02559.hp2	a0009 a0010 a0009 a0010	a0009c0015 a0009c0017 a0010c0019 a0009c0015 a0009c0017 a0010c0019	a0009c0015t0001 a0009c0017t0001 a0010c0019t0002 a0009c0015t0001 a0009c0017t0001 a0010c0019t0002	a0009c0015t0001g0359 a0009c0017t0001g0358 a0010c0019t0002g0357 a0009c0015t0001g0359 a0009c0017t0001g0358 a0010c0019t0002g0357	3	382	0.0079	52	c.107 others(69): Show c.107+7762_107+7763insATTAAATATAATTATATATTTATATATT AAATATAATTATATATTTATATAT	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	2/11			chr1	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0053 a0002c0006t0002g0053	1	398	0.0025	52	c.16 others(63): Show c.1637_*1638insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(45): Show TTCTCTCCCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0327 a0001c0005t0002g0327	1	396	0.0025	52	c.280 others(69): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGGGAGAGAGAGAGAGGGAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD3_chr11_74007718_74176002	74066267	A A	AGGGGGAA others(45): Show AGGGGGAACATCACACACTGGGGCCTGTCGTGGGGTGGGGGGGAGGGGGG GAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	318	0.0031	52	c.495 others(71): Show c.4951+7985_4951+7986insCTCCCCCCCTCCCCCCCACCCCACGA CAGGCCCCAGTGTGTGATGTTCCCCC	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	24/32			chr11	TogoVar
C2CD6_chr2_201482421_201624178	201534535	C C	CCAAAACA others(45): Show CCAAAACAAAAAACCTAAACAAAAACAAAAAACAAAAAACTTGGGTTTGA AGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG02896.hp2 others(2): Show HG02451.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp1 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0266 a0005c0006t0001g0017	5	270	0.0185	52	c.150 others(71): Show c.1506+1485_1506+1486insTCTTCAAACCCAAGTTTTTTGTTTTT TGTTTTTGTTTAGGTTTTTTGTTTTG	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	13/15			chr2	TogoVar
C2CD6_chr2_201482421_201624178	201563469	A A	ACCCCCCC others(45): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	270	0.0037	52	c.977 others(69): Show c.977+2259_977+2260insGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGG	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15			chr2	TogoVar
C2CD6_chr2_201482421_201624178	201563470	C C	CCCCCCCC others(45): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0021 a0021	a0021c0037 a0021c0037	a0021c0037t0001 a0021c0037t0001	a0021c0037t0001g0265 a0021c0037t0001g0265	1	270	0.0037	52	c.977 others(69): Show c.977+2258_977+2259insAGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGG	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15			chr2	TogoVar
C3_chr19_6672704_6725650	6689300	T T	TCTCCCTC others(45): Show TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG02451.hp1 HG03041.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0345 a0001c0024t0001g0346 a0001c0024t0001g0345 a0001c0024t0001g0346	2	370	0.0054	52	c.348 others(71): Show c.3489+1328_3489+1329insGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAG	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	27/40			chr19	TogoVar
C7_chr5_40904497_40989643	40980391	G G	GAGTTTAG others(45): Show GAGTTTAGCAAGTGTTAGAGGGGTGTTAAAAACATACTAGCACCAAGCTG ACA	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0302 a0004c0004t0002g0302	1	380	0.0026	52	c.235 others(69): Show c.2350+483_2350+534dupAGTTTAGCAAGTGTTAGAGGGGTGTTAA AAACATACTAGCACCAAGCTGACA	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf50_chr7_992006_1143247	1136565	T T	TATATATA others(45): Show TATATATAAATATATGTAAACATATATATGAACATATATAAACATATATA AAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02630.hp2 others(13): Show HG02109.hp1 HG02145.hp1 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 NA19030.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0002c0002t0003	a0001c0001t0002g0318 a0001c0001t0005g0308 a0001c0001t0005g0314 others(13): Show a0001c0001t0002g0318 a0001c0001t0005g0308 a0001c0001t0005g0314 a0001c0001t0011g0309 a0001c0001t0011g0311 a0001c0001t0012g0310 a0001c0001t0012g0312 a0001c0001t0012g0313 a0001c0001t0012g0321 a0001c0001t0015g0319 a0001c0001t0015g0320 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0322 a0002c0002t0003g0323	16	326	0.0491	52	c.-2+ others(65): Show c.-2+749_-2+750insGTTTATATATGTTTATATATGTTCATATATAT GTTTACATATATTTATATAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C8orf34_chr8_68325955_68824023	68794505	A A	ATATATAA others(45): Show ATATATAAATATATATATATATATATATATATATATATATATATATTTTT TTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	128	0.0078	52	c.154 others(71): Show c.1549+6970_1549+6971insATATAAATATATATATATATATATAT ATATATATATATATATATTTTTTTTT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68794505	A A	ATATATAT others(45): Show ATATATATAAATATATATATATATATATATATATATATATATATATTTTT TTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0091 a0001c0002t0003g0091	1	128	0.0078	52	c.154 others(71): Show c.1549+6970_1549+6971insATATATAAATATATATATATATATAT ATATATATATATATATATTTTTTTTT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531183	C C	CAGGGCAG others(45): Show CAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGGC AGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02922.hp1 HG03139.hp2 others(2): Show HG01975.hp1 HG02922.hp1 HG03139.hp2 NA19030.hp2 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0010 a0002c0004t0003g0010	5	398	0.0126	52	c.-22 others(63): Show c.-2268_-2267insTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCA CCTGCTGCTCCCTGCCCT	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2073		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(45): Show AGAGCAGCAGGTGGGATGTGGACTGGACACAGCAGGCACAGCAGAAGGGC AGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0055 a0001c0003t0003g0055	1	398	0.0025	52	c.-22 others(63): Show c.-2276_-2275insGCTGCCCTTCTGCTGTGCCTGCTGTGTCCAGTCC ACATCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(45): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03491.hp2 HG03688.hp2 others(3): Show HG03017.hp1 HG03491.hp2 HG03688.hp2 HG04184.hp1 NA18975.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0002t0002g0001 a0001c0002t0002g0040 a0001c0001t0001g0003 a0001c0002t0002g0001 a0001c0002t0002g0040	6	398	0.0151	52	c.-22 others(63): Show c.-2276_-2275insGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar

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