Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ 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
PSMD9_chr12_121883790_121923297	121904639	T T	TTTATTAT others(2): Show TTTATTATTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG02080.hp1 others(3): Show HG00597.hp2 HG00621.hp2 HG02080.hp1 HG02145.hp1 HG02615.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0138 others(3): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0239 a0001c0001t0001g0263 a0001c0001t0001g0318	6	398	0.0151	9	c.555 others(26): Show c.555+1559_555+1567dupATTATTATT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSME4_chr2_53859069_53975993	53933375	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00738.hp2 others(20): Show HG00099.hp2 HG00558.hp2 HG00738.hp2 HG01106.hp1 HG01167.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03516.hp2 HG03540.hp2 NA18951.hp2 NA18973.hp2 NA19043.hp2 NA19240.hp2	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0015	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0009 a0003c0004 a0011c0023 a0015c0028	a0001c0001t0001 a0001c0006t0003 a0001c0006t0014 others(6): Show a0001c0001t0001 a0001c0006t0003 a0001c0006t0014 a0001c0007t0001 a0001c0007t0006 a0001c0009t0001 a0003c0004t0001 a0011c0023t0003 a0015c0028t0001	a0001c0001t0001g0191 a0001c0006t0003g0030 a0001c0006t0003g0031 others(20): Show a0001c0001t0001g0191 a0001c0006t0003g0030 a0001c0006t0003g0031 a0001c0006t0003g0156 a0001c0006t0003g0158 a0001c0006t0003g0159 a0001c0006t0003g0161 a0001c0006t0003g0166 a0001c0006t0003g0171 a0001c0006t0003g0175 a0001c0006t0003g0177 a0001c0006t0003g0178 a0001c0006t0003g0218 a0001c0006t0003g0371 a0001c0006t0014g0164 a0001c0007t0001g0179 a0001c0007t0006g0196 a0001c0009t0001g0360 a0001c0009t0001g0367 a0003c0004t0001g0183 a0003c0004t0001g0194 a0011c0023t0003g0028 a0015c0028t0001g0368	23	384	0.0599	9	c.958 others(24): Show c.958-624_958-616dupTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	8/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53967649	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00733.hp2 others(20): Show HG00423.hp1 HG00609.hp1 HG00733.hp2 HG01168.hp2 HG01169.hp2 HG01928.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02735.hp2 HG03098.hp2 HG03486.hp1 HG03710.hp1 HG03942.hp1 NA18940.hp1 NA18943.hp1 NA18953.hp2 NA18955.hp2 NA18994.hp2 NA19000.hp1 NA19066.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(4): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0001c0017 a0002c0003 a0002c0033	a0001c0001t0001 a0001c0005t0001 a0001c0006t0003 others(4): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0003 a0001c0007t0006 a0001c0017t0001 a0002c0003t0002 a0002c0033t0002	a0001c0001t0001g0173 a0001c0005t0001g0311 a0001c0005t0001g0344 others(20): Show a0001c0001t0001g0173 a0001c0005t0001g0311 a0001c0005t0001g0344 a0001c0005t0001g0345 a0001c0005t0001g0346 a0001c0005t0001g0347 a0001c0005t0001g0348 a0001c0005t0001g0349 a0001c0005t0001g0350 a0001c0005t0001g0351 a0001c0005t0001g0352 a0001c0006t0003g0174 a0001c0006t0003g0175 a0001c0006t0003g0176 a0001c0007t0006g0012 a0001c0017t0001g0309 a0002c0003t0002g0024 a0002c0003t0002g0144 a0002c0003t0002g0145 a0002c0003t0002g0146 a0002c0003t0002g0147 a0002c0003t0002g0148 a0002c0033t0002g0375	23	384	0.0599	9	c.242 others(26): Show c.242+2885_242+2893dupTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	1/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53969916	C C	CTTAAGAT others(2): Show CTTAAGATCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02976.hp2 others(1): Show HG02109.hp1 HG02145.hp1 HG02976.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0002 a0001c0006t0005g0003 a0001c0006t0005g0004 others(1): Show a0001c0006t0005g0002 a0001c0006t0005g0003 a0001c0006t0005g0004 a0001c0006t0005g0005	4	384	0.0104	9	c.242 others(24): Show c.242+626_242+627insAGATCTTAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	1/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1147176	T T	TCATCACC others(2): Show TCATCACCAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01257.hp1 NA19002.hp2 HG01106.hp1 HG01257.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0060 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0001g0060 a0001c0001t0003g0106 a0001c0001t0003g0107	3	326	0.0092	9	c.551 others(28): Show c.551+11872_551+11873insTCACCACCA	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATTTTT others(2): Show ATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01175.hp1 HG01943.hp1 others(18): Show HG00438.hp1 HG01175.hp1 HG01943.hp1 HG02074.hp1 HG02080.hp1 HG02165.hp2 HG02572.hp2 HG02735.hp2 HG03654.hp2 NA18942.hp1 NA18945.hp1 NA18962.hp2 NA18984.hp2 NA18990.hp1 NA19001.hp2 NA19012.hp1 NA19055.hp2 NA19066.hp1 NA19079.hp1 NA19079.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0048 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0082 a0001c0001t0001g0133	21	412	0.0510	9	c.174 others(26): Show c.174+1096_174+1097insATTTTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(95): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02698.hp1 HG02738.hp2 HG03017.hp1 HG03139.hp1 HG03239.hp1 HG03491.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18973.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19084.hp2 NA19087.hp2 NA19090.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0018 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0083 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0177	98	412	0.2379	9	c.174 others(26): Show c.174+1105_174+1113dupTTTTTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSMG4_chr6_3253947_3273049	3260292	T T	TATATATA others(2): Show TATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp1 HG02922.hp1 others(2): Show HG02559.hp2 HG02647.hp1 HG02922.hp1 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	5	412	0.0121	9	c.174 others(26): Show c.174+1096_174+1097insATATATATA	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2			chr6	TogoVar
PSORS1C1_chr6_31109800_31145092	31127561	A A	AATTATTA others(2): Show AATTATTATT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG00741.hp1 others(41): Show HG00438.hp1 HG00673.hp1 HG00741.hp1 HG01192.hp2 HG01978.hp1 HG02040.hp1 HG02155.hp1 HG02258.hp1 HG02300.hp1 HG02523.hp2 HG02886.hp2 HG03017.hp2 HG03453.hp2 HG03471.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18952.hp1 NA18960.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18979.hp1 NA18980.hp1 NA18989.hp1 NA18989.hp2 NA18999.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0003c0009 a0004c0005 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0002c0002t0005 a0003c0003t0004 a0003c0003t0009 a0003c0009t0006 a0003c0009t0007 a0004c0005t0001 a0004c0005t0003 a0004c0005t0005 a0005c0004t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0191 others(29): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0007g0267 a0001c0001t0013g0199 a0001c0001t0013g0202 a0001c0001t0015g0064 a0002c0002t0005g0030 a0002c0002t0005g0244 a0002c0002t0005g0247 a0002c0002t0005g0256 a0002c0002t0005g0260 a0002c0002t0005g0261 a0003c0003t0004g0231 a0003c0003t0009g0249 a0003c0009t0006g0049 a0003c0009t0007g0268 a0004c0005t0001g0195 a0004c0005t0003g0181 a0004c0005t0005g0228 a0005c0004t0001g0013 a0005c0004t0001g0025 a0005c0004t0001g0055 a0005c0004t0001g0198 a0005c0004t0001g0200 a0005c0004t0001g0201 a0005c0004t0001g0203	44	449	0.0980	9	c.-65 others(26): Show c.-65+1744_-65+1752dupATTATTATT	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSTPIP2_chr18_45978536_46077260	45979201	C C	CCTTCTTC others(2): Show CCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01346.hp2 others(21): Show HG01167.hp1 HG01169.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG02109.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp2 HG03688.hp2 NA18998.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0006 a0002c0002 a0002c0003 a0002c0006	a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 others(5): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0011 a0002c0003t0002 a0002c0003t0012 a0002c0006t0002	a0002c0002t0002g0139 a0002c0002t0002g0151 a0002c0002t0002g0158 others(20): Show a0002c0002t0002g0139 a0002c0002t0002g0151 a0002c0002t0002g0158 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0005g0002 a0002c0002t0005g0133 a0002c0002t0005g0134 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0006g0006 a0002c0002t0006g0007 a0002c0002t0006g0009 a0002c0002t0006g0143 a0002c0002t0006g0233 a0002c0002t0009g0024 a0002c0002t0009g0109 a0002c0002t0009g0135 a0002c0002t0011g0266 a0002c0002t0011g0284 a0002c0003t0002g0129 a0002c0003t0012g0005 a0002c0006t0002g0262	24	316	0.0760	9	c.62 others(20): Show c.6257_*6258insAAGAAGAAG	PSTPIP2	ENSG00000152229.18	transcript	ENST00000409746.5	protein_coding		4334		chr18	TogoVar
PTAR1_chr9_69704525_69765011	69759786	T T	TGGACGCT others(2): Show TGGACGCTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00621.hp1 others(66): Show HG00140.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02109.hp2 HG02145.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG02970.hp2 HG03225.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18950.hp2 NA18954.hp2 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA19001.hp2 NA19011.hp2 NA19012.hp2 NA19058.hp2 NA19078.hp2 NA19079.hp2 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0004c0004	a0001c0001t0003 a0001c0001t0021 a0001c0001t0031 others(11): Show a0001c0001t0003 a0001c0001t0021 a0001c0001t0031 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0002c0002t0010 a0002c0002t0056 a0002c0005t0043 a0003c0003t0003 a0004c0004t0003	a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0012 others(45): Show a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0247 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0021g0043 a0001c0001t0031g0267 a0001c0001t0037g0272 a0001c0001t0038g0277 a0001c0001t0039g0284 a0001c0001t0041g0268 a0001c0001t0042g0257 a0001c0001t0044g0274 a0002c0002t0010g0246 a0002c0002t0010g0250 a0002c0002t0010g0251 a0002c0002t0010g0252 a0002c0002t0010g0253 a0002c0002t0010g0254 a0002c0002t0056g0249 a0002c0005t0043g0248 a0003c0003t0003g0045 a0004c0004t0003g0255	69	388	0.1778	9	c.86+ others(20): Show c.86+58_86+66dupCAAGCGTCC	PTAR1	ENSG00000188647.13	transcript	ENST00000340434.5	protein_coding	1/7			chr9	TogoVar
PTBP2_chr1_96716784_96820049	96791826	C C	CTTTTTTT others(2): Show CTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01167.hp2 others(30): Show HG00544.hp2 HG00621.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01952.hp2 HG02004.hp1 HG02027.hp1 HG02080.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02615.hp2 HG03688.hp1 HG04199.hp2 HG04204.hp1 NA18962.hp1 NA18986.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19011.hp2 NA19054.hp2 NA19062.hp2 NA19072.hp2 NA19074.hp1 NA19079.hp2 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0018	a0001c0001t0002g0167 a0001c0001t0002g0183 a0001c0001t0002g0190 others(30): Show a0001c0001t0002g0167 a0001c0001t0002g0183 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0354 a0001c0001t0003g0146 a0001c0001t0013g0219 a0001c0001t0018g0232	33	364	0.0907	9	c.904 others(26): Show c.904+6580_904+6581insGTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG03041.hp2 others(3): Show HG02647.hp2 HG02965.hp2 HG03041.hp2 HG03209.hp2 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0250 a0001c0002t0005g0251 others(2): Show a0001c0002t0005g0002 a0001c0002t0005g0250 a0001c0002t0005g0251 a0001c0002t0005g0253 a0001c0002t0005g0258	6	364	0.0165	9	c.905 others(26): Show c.905-5495_905-5487dupTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112228561	T T	TTATACTA others(2): Show TTATACTATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(173): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18991.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0005t0001 a0001c0006t0007 a0001c0007t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0093 others(173): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0337 a0001c0001t0003g0033 a0001c0001t0003g0059 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0156 a0001c0001t0003g0194 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0218 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0264 a0001c0001t0003g0267 a0001c0001t0003g0269 a0001c0001t0003g0334 a0001c0001t0006g0094 a0001c0001t0006g0098 a0001c0001t0006g0112 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0217 a0001c0001t0007g0317 a0001c0001t0007g0318 a0001c0001t0007g0340 a0001c0001t0007g0341 a0001c0001t0008g0241 a0001c0001t0008g0276 a0001c0001t0008g0301 a0001c0001t0008g0302 a0001c0001t0008g0303 a0001c0001t0009g0066 a0001c0001t0009g0067 a0001c0001t0009g0258 a0001c0001t0009g0291 a0001c0001t0010g0242 a0001c0001t0010g0278 a0001c0001t0010g0279 a0001c0001t0010g0280 a0001c0001t0013g0201 a0001c0001t0013g0288 a0001c0001t0013g0289 a0001c0001t0015g0134 a0001c0001t0015g0135 a0001c0001t0016g0092 a0001c0001t0016g0142 a0001c0001t0017g0077 a0001c0001t0017g0078 a0001c0001t0024g0339 a0001c0001t0025g0313 a0001c0001t0026g0158 a0001c0001t0027g0198 a0001c0001t0028g0277 a0001c0001t0030g0216 a0001c0001t0032g0312 a0001c0002t0001g0110 a0001c0002t0001g0191 a0001c0002t0001g0243 a0001c0002t0001g0266 a0001c0002t0003g0283 a0001c0002t0011g0188 a0001c0002t0011g0190 a0001c0002t0011g0192 a0001c0002t0011g0299 a0001c0005t0001g0248 a0001c0006t0007g0075 a0001c0007t0001g0239	176	342	0.5146	9	c.105 others(24): Show c.1055-90_1055-89insTATAGTATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	10/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112232012	A A	AGAAAGAA others(2): Show AGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00733.hp1 others(14): Show HG00140.hp2 HG00558.hp1 HG00733.hp1 HG00738.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG02015.hp2 HG02055.hp2 HG02074.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03834.hp1 NA18906.hp2 NA19005.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0028 a0001c0001t0032 a0001c0002t0001	a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0215 others(14): Show a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0215 a0001c0001t0001g0252 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0337 a0001c0001t0006g0094 a0001c0001t0006g0098 a0001c0001t0006g0112 a0001c0001t0006g0153 a0001c0001t0014g0071 a0001c0001t0028g0277 a0001c0001t0032g0312 a0001c0002t0001g0266	17	342	0.0497	9	c.102 others(24): Show c.1020+86_1020+87insCTTTCTTTC	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440675	T T	TATATATA others(2): Show TATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG03453.hp2 NA18999.hp2 HG01081.hp2 HG03453.hp2 NA18999.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0006 a0001c0002t0009 a0004c0007t0008 a0001c0001t0006 a0001c0002t0009 a0004c0007t0008	a0001c0001t0006g0163 a0001c0002t0009g0039 a0004c0007t0008g0240 a0001c0001t0006g0163 a0001c0002t0009g0039 a0004c0007t0008g0240	3	380	0.0079	9	c.-20 others(20): Show c.-2011_-2010insTATATATAT	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1878		chr7	TogoVar
PTCHD1_chrX_23329849_23409374	23334787	T T	TGCCGCCG others(2): Show TGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02523.hp1 HG04204.hp1 others(3): Show HG01981.hp1 HG02523.hp1 HG04204.hp1 NA18612.hp1 NA18956.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0003 a0001c0002t0005 others(3): Show a0001c0001t0027 a0001c0002t0003 a0001c0002t0005 a0001c0002t0037 a0001c0002t0058 a0001c0002t0153	a0001c0001t0027g0139 a0001c0002t0003g0237 a0001c0002t0005g0065 others(3): Show a0001c0001t0027g0139 a0001c0002t0003g0237 a0001c0002t0005g0065 a0001c0002t0037g0011 a0001c0002t0058g0026 a0001c0002t0153g0199	6	297	0.0202	9	c.-89 others(16): Show c.-89_-88insGCCGCCGCC	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding		61		chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342310	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0139 a0001c0001t0027g0139	1	297	0.0034	9	c.351 others(26): Show c.351+7085_351+7086insATATATATT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23350060	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02080.hp1 HG02083.hp1 others(3): Show HG00408.hp2 HG02080.hp1 HG02083.hp1 HG03239.hp2 HG03669.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0086 a0001c0001t0110 a0001c0002t0002 others(3): Show a0001c0001t0086 a0001c0001t0110 a0001c0002t0002 a0001c0002t0011 a0001c0002t0044 a0001c0002t0149	a0001c0001t0086g0234 a0001c0001t0110g0233 a0001c0002t0002g0229 others(3): Show a0001c0001t0086g0234 a0001c0001t0110g0233 a0001c0002t0002g0229 a0001c0002t0011g0293 a0001c0002t0044g0215 a0001c0002t0149g0235	6	297	0.0202	9	c.351 others(28): Show c.351+14855_351+14863dupAAAAAAAAA	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD4_chr6_47851673_48116197	48002754	T T	TATAATAA others(2): Show TATAATAATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02647.hp2 NA18941.hp1 HG01261.hp2 HG02647.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0029 a0001c0001t0072 a0001c0001t0004 a0001c0001t0029 a0001c0001t0072	a0001c0001t0004g0070 a0001c0001t0029g0088 a0001c0001t0072g0172 a0001c0001t0004g0070 a0001c0001t0029g0088 a0001c0001t0072g0172	3	182	0.0165	9	c.898 others(26): Show c.898+5871_898+5879dupTATTATTAT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTCRA_chr6_42911053_42930838	42917190	A A	ATATTATT others(2): Show ATATTATTAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03209.hp1 NA18747.hp1 others(1): Show HG01074.hp1 HG03209.hp1 NA18747.hp1 NA19082.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0002 a0001c0001t0001 a0002c0002t0001 a0003c0003t0002	a0001c0001t0001g0133 a0001c0001t0001g0134 a0002c0002t0001g0102 others(1): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0002c0002t0001g0102 a0003c0003t0002g0135	4	412	0.0097	9	c.58+ others(24): Show c.58+1098_58+1106dupATTATTATT	PTCRA	ENSG00000171611.10	transcript	ENST00000304672.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTCRA_chr6_42911053_42930838	42917526	A A	ATATTATT others(2): Show ATATTATTAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02055.hp2 NA18945.hp2 others(1): Show HG02015.hp1 HG02055.hp2 NA18945.hp2 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0234 a0002c0002t0001g0120	4	412	0.0097	9	c.58+ others(24): Show c.58+1435_58+1443dupTTATTATTA	PTCRA	ENSG00000171611.10	transcript	ENST00000304672.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTEN_chr10_87858625_87976930	87858636	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00621.hp2 others(7): Show HG00438.hp2 HG00621.hp1 HG00621.hp2 HG01123.hp2 HG01255.hp1 HG01261.hp1 HG02074.hp1 HG02622.hp1 NA18990.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0022 others(5): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0057 a0001c0001t0058 a0001c0001t0087	a0001c0001t0005g0165 a0001c0001t0008g0130 a0001c0001t0008g0203 others(7): Show a0001c0001t0005g0165 a0001c0001t0008g0130 a0001c0001t0008g0203 a0001c0001t0022g0080 a0001c0001t0022g0082 a0001c0001t0024g0188 a0001c0001t0029g0301 a0001c0001t0057g0127 a0001c0001t0058g0132 a0001c0001t0087g0195	10	322	0.0311	9	c.-58 others(20): Show c.-5834_-5833insAAAAAAAAA	PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding		4988		chr10	TogoVar
PTEN_chr10_87858625_87976930	87921219	T T	TTGCCTTG others(2): Show TTGCCTTGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02647.hp1 HG02055.hp1 HG02145.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0030 a0001c0001t0003 a0001c0001t0006 a0001c0001t0030	a0001c0001t0003g0078 a0001c0001t0006g0176 a0001c0001t0030g0074 a0001c0001t0003g0078 a0001c0001t0006g0176 a0001c0001t0030g0074	3	322	0.0093	9	c.165 others(26): Show c.165-4283_165-4275dupGCCTTGCCT	PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTGER3_chr1_70965782_71052816	71029926	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02080.hp1 HG02145.hp1 others(11): Show HG01255.hp1 HG02080.hp1 HG02145.hp1 HG02559.hp1 HG02647.hp2 HG02723.hp1 HG03041.hp1 HG03209.hp1 HG03209.hp2 HG03540.hp1 HG04184.hp1 NA18906.hp1 NA18994.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0010 a0001c0001 a0001c0004 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0005c0010t0002	a0001c0001t0001g0199 a0001c0001t0001g0277 a0001c0001t0001g0291 others(11): Show a0001c0001t0001g0199 a0001c0001t0001g0277 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0321 a0001c0001t0002g0113 a0001c0004t0002g0347 a0001c0004t0002g0348 a0001c0004t0002g0349 a0001c0004t0002g0350 a0001c0004t0002g0351 a0001c0004t0002g0352 a0005c0010t0002g0353	14	372	0.0376	9	c.897 others(28): Show c.897+16746_897+16754dupATTATTATT	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	1/3			chr1	TogoVar
PTGER4_chr5_40674915_40698735	40698092	C C	CAAAAAAA others(2): Show CAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01074.hp1 HG01175.hp1 others(9): Show HG00423.hp1 HG01074.hp1 HG01175.hp1 HG01358.hp2 HG01361.hp2 HG02135.hp2 HG02698.hp2 NA18964.hp1 NA18981.hp2 NA18992.hp2 NA19010.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0006t0002	a0001c0001t0001g0010 a0001c0001t0002g0005 a0001c0001t0002g0006 others(6): Show a0001c0001t0001g0010 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0060 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0003g0006 a0002c0006t0002g0091	12	406	0.0296	9	c.57 others(20): Show c.5714_*5715insAAAAAAAAA	PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding		4358		chr5	TogoVar
PTGES3L_chr17_42963103_42985080	42981992	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01099.hp1 others(10): Show HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG02109.hp2 HG02683.hp1 HG03490.hp1 HG03579.hp1 NA18948.hp1 NA18962.hp2 NA18969.hp1 NA19081.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0052 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0076 a0002c0002t0001g0204 a0004c0004t0001g0194 a0004c0004t0001g0195	13	336	0.0387	9	c.-19 others(20): Show c.-1948_-1940dupAAAAAAAAA	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		1913		chr17	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00733.hp2 others(18): Show HG00140.hp1 HG00423.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01109.hp1 HG01256.hp1 HG01258.hp1 HG02027.hp2 HG02572.hp2 HG02698.hp1 HG02723.hp1 HG03139.hp1 HG03239.hp2 NA18973.hp1 NA19011.hp2 NA19012.hp2 NA19067.hp1 NA19082.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0092 a0001c0001t0001g0117 a0001c0001t0001g0119 others(18): Show a0001c0001t0001g0092 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0200 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0255 a0001c0001t0003g0362 a0001c0001t0003g0366 a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0005g0045	21	372	0.0565	9	c.3-1 others(22): Show c.3-1769_3-1761dupTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGES3_chr12_56658349_56693284	56682721	G G	GAAAAAAA others(2): Show GAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG01978.hp2 others(29): Show HG01109.hp1 HG01496.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp2 HG03942.hp2 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18978.hp2 NA18993.hp1 NA18994.hp2 NA19000.hp2 NA19030.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0073 others(29): Show a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0223 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0003g0365 a0001c0001t0003g0366 a0001c0001t0008g0360	32	372	0.0860	9	c.2+5 others(22): Show c.2+5268_2+5276dupTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGES3_chr12_56658349_56693284	56683473	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG00738.hp1 others(36): Show HG00544.hp2 HG00639.hp2 HG00738.hp1 HG01074.hp1 HG01255.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02145.hp2 HG02523.hp2 HG03041.hp1 HG03486.hp2 HG03704.hp1 HG03704.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18968.hp2 NA18975.hp2 NA18983.hp2 NA18990.hp2 NA18998.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19056.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0033 others(36): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0160 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0229 a0001c0001t0003g0364 a0001c0001t0007g0115 a0001c0001t0008g0360 a0001c0001t0008g0361	39	372	0.1048	9	c.2+4 others(22): Show c.2+4516_2+4524dupTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGFRN_chr1_116904916_116995353	116927525	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02280.hp2 others(11): Show HG01884.hp2 HG02145.hp1 HG02280.hp2 HG02630.hp1 HG02717.hp1 HG02965.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0012	a0001c0001 a0001c0011 a0006c0022 others(3): Show a0001c0001 a0001c0011 a0006c0022 a0007c0010 a0007c0013 a0012c0021	a0001c0001t0001 a0001c0001t0014 a0001c0011t0001 others(4): Show a0001c0001t0001 a0001c0001t0014 a0001c0011t0001 a0006c0022t0011 a0007c0010t0013 a0007c0013t0002 a0012c0021t0036	a0001c0001t0001g0230 a0001c0001t0001g0274 a0001c0001t0001g0275 others(9): Show a0001c0001t0001g0230 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0014g0014 a0001c0011t0001g0013 a0006c0022t0011g0265 a0007c0010t0013g0284 a0007c0010t0013g0285 a0007c0010t0013g0286 a0007c0013t0002g0268 a0012c0021t0036g0287	14	314	0.0446	9	c.50- others(26): Show c.50-14179_50-14171dupTTTTTTTTT	PTGFRN	ENSG00000134247.10	transcript	ENST00000393203.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTGIR_chr19_46615468_46630089	46619579	G G	GAAAGAAA others(2): Show GAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02132.hp1 HG02647.hp1 others(1): Show HG02071.hp1 HG02132.hp1 HG02647.hp1 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0002c0004t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0019 a0002c0004t0001g0008	4	420	0.0095	9	c.17 others(20): Show c.1700_*1701insTCTTTCTTT	PTGIR	ENSG00000160013.9	transcript	ENST00000291294.7	protein_coding		888		chr19	TogoVar
PTGIS_chr20_49498874_49573137	49568117	C C	CGCGGGGC others(2): Show CGCGGGGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00741.hp1 others(34): Show HG00438.hp2 HG00558.hp1 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01243.hp1 HG01361.hp1 HG02040.hp2 HG02109.hp1 HG02132.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03831.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA19030.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0030 a0001c0031 a0002c0007 a0003c0014 a0005c0010	a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 others(20): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0027 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0002t0011 a0001c0003t0007 a0001c0003t0008 a0001c0003t0016 a0001c0004t0062 a0001c0006t0017 a0001c0008t0011 a0001c0008t0061 a0001c0030t0008 a0001c0031t0017 a0002c0007t0028 a0002c0007t0063 a0003c0014t0016 a0005c0010t0064	a0001c0001t0007g0090 a0001c0001t0007g0105 a0001c0001t0007g0115 others(34): Show a0001c0001t0007g0090 a0001c0001t0007g0105 a0001c0001t0007g0115 a0001c0001t0007g0118 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0008g0089 a0001c0001t0008g0093 a0001c0001t0008g0094 a0001c0001t0008g0101 a0001c0001t0016g0092 a0001c0001t0017g0122 a0001c0001t0027g0107 a0001c0001t0027g0108 a0001c0001t0057g0106 a0001c0001t0058g0112 a0001c0001t0059g0113 a0001c0001t0060g0116 a0001c0002t0011g0103 a0001c0002t0011g0104 a0001c0003t0007g0096 a0001c0003t0007g0120 a0001c0003t0008g0095 a0001c0003t0016g0091 a0001c0004t0062g0114 a0001c0006t0017g0117 a0001c0008t0011g0097 a0001c0008t0011g0100 a0001c0008t0011g0102 a0001c0008t0061g0098 a0001c0030t0008g0099 a0001c0031t0017g0125 a0002c0007t0028g0110 a0002c0007t0028g0111 a0002c0007t0063g0109 a0003c0014t0016g0119 a0005c0010t0064g0121	37	316	0.1171	9	c.-10 others(15): Show c.-10_-2dupCAGCCCCGC	PTGIS	ENSG00000124212.6	transcript	ENST00000244043.5	protein_coding	1/10	2		chr20	TogoVar
PTGR2_chr14_73846831_73890726	73857664	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(34): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01109.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02132.hp2 HG02148.hp1 HG02683.hp2 HG02886.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp2 NA18906.hp2 NA18962.hp1 NA18984.hp2 NA18988.hp2 NA19074.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0009 others(24): Show a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0003g0089 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0125 a0001c0001t0003g0127	37	420	0.0881	9	c.-47 others(26): Show c.-47-1138_-47-1130dupTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGR2_chr14_73846831_73890726	73876483	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01109.hp1 others(6): Show HG00140.hp1 HG00639.hp1 HG01109.hp1 HG01243.hp2 HG03130.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012	a0001c0001t0003g0012 a0001c0001t0003g0081 a0001c0001t0003g0098 others(5): Show a0001c0001t0003g0012 a0001c0001t0003g0081 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0011g0134 a0001c0001t0012g0369	9	420	0.0214	9	c.349 others(24): Show c.349-507_349-499dupTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGR2_chr14_73846831_73890726	73883188	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG00673.hp2 others(14): Show HG00423.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp2 HG02055.hp2 HG02109.hp2 HG02135.hp1 HG03490.hp1 NA18948.hp1 NA18951.hp1 NA18977.hp2 NA18980.hp1 NA18990.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0022 a0001c0001t0002g0306 a0001c0001t0002g0308 others(13): Show a0001c0001t0002g0022 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0317 a0001c0001t0002g0322 a0001c0001t0002g0334 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0361 a0001c0001t0002g0363 a0001c0001t0008g0083 a0001c0001t0008g0087 a0001c0001t0008g0088	17	420	0.0405	9	c.979 others(24): Show c.979+774_979+782dupTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGS1_chr9_122366024_122400703	122396683	A A	AAATAATA others(2): Show AAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(68): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp2 HG02056.hp1 HG02109.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04199.hp1 NA18948.hp2 NA18949.hp2 NA18969.hp2 NA18998.hp1 NA19000.hp2 NA19030.hp1 NA19043.hp1 NA19063.hp1 NA19063.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0011 a0001c0019 a0001c0021 a0002c0007 a0003c0015 a0003c0024 a0004c0009 a0005c0010 a0007c0022 a0010c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(18): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0022 a0001c0003t0003 a0001c0008t0002 a0001c0011t0001 a0001c0011t0002 a0001c0019t0001 a0001c0021t0001 a0002c0007t0001 a0003c0015t0001 a0003c0024t0026 a0004c0009t0001 a0005c0010t0002 a0007c0022t0006 a0010c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0028 others(55): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0166 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0004g0001 a0001c0001t0004g0154 a0001c0001t0004g0164 a0001c0001t0004g0179 a0001c0001t0019g0001 a0001c0001t0020g0173 a0001c0002t0001g0019 a0001c0002t0001g0029 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0141 a0001c0002t0001g0195 a0001c0002t0001g0208 a0001c0002t0002g0169 a0001c0002t0002g0211 a0001c0002t0006g0004 a0001c0002t0006g0137 a0001c0002t0006g0145 a0001c0002t0022g0146 a0001c0003t0003g0127 a0001c0008t0002g0220 a0001c0008t0002g0221 a0001c0011t0001g0196 a0001c0011t0002g0023 a0001c0019t0001g0002 a0001c0021t0001g0064 a0002c0007t0001g0014 a0002c0007t0001g0091 a0003c0015t0001g0075 a0003c0024t0026g0077 a0004c0009t0001g0019 a0004c0009t0001g0203 a0004c0009t0001g0204 a0004c0009t0001g0205 a0004c0009t0001g0229 a0005c0010t0002g0012 a0005c0010t0002g0133 a0007c0022t0006g0151 a0010c0016t0001g0068	71	332	0.2139	9	c.41 others(20): Show c.4139_*4140insAATAATAAT	PTGS1	ENSG00000095303.17	transcript	ENST00000362012.7	protein_coding		981		chr9	TogoVar
PTK2B_chr8_27320552_27464386	27320980	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG02258.hp2 HG02572.hp2 others(15): Show HG01071.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03927.hp1 NA18946.hp2 NA18955.hp2 NA18966.hp1 NA19030.hp2 NA19087.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0009 a0002c0003 a0002c0004 a0002c0006 a0009c0019	a0001c0001t0003 a0001c0002t0001 a0001c0007t0003 others(6): Show a0001c0001t0003 a0001c0002t0001 a0001c0007t0003 a0001c0008t0003 a0001c0009t0002 a0002c0003t0002 a0002c0004t0002 a0002c0006t0001 a0009c0019t0002	a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0002t0001g0226 others(15): Show a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0002t0001g0226 a0001c0007t0003g0278 a0001c0007t0003g0280 a0001c0007t0003g0281 a0001c0008t0003g0292 a0001c0008t0003g0320 a0001c0009t0002g0103 a0002c0003t0002g0256 a0002c0003t0002g0271 a0002c0004t0002g0099 a0002c0004t0002g0101 a0002c0006t0001g0006 a0002c0006t0001g0286 a0002c0006t0001g0290 a0002c0006t0001g0291 a0009c0019t0002g0102	18	328	0.0549	9	c.-47 others(20): Show c.-4739_-4738insTTTTTTTTT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding		4571		chr8	TogoVar
PTK2B_chr8_27320552_27464386	27432767	G G	GCAGAGCG others(2): Show GCAGAGCGTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp1 others(111): Show HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18947.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18966.hp2 NA18978.hp2 NA18979.hp1 NA18985.hp2 NA18991.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19070.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0007 a0001c0008 others(10): Show a0001c0001 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0021 a0001c0030 a0002c0003 a0002c0005 a0002c0024 a0003c0014 a0004c0015 a0010c0032	a0001c0001t0003 a0001c0001t0005 a0001c0007t0003 others(11): Show a0001c0001t0003 a0001c0001t0005 a0001c0007t0003 a0001c0008t0003 a0001c0010t0003 a0001c0012t0004 a0001c0021t0004 a0001c0030t0002 a0002c0003t0002 a0002c0005t0001 a0002c0024t0001 a0003c0014t0003 a0004c0015t0001 a0010c0032t0003	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 others(110): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0059 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0143 a0001c0001t0003g0178 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0273 a0001c0001t0003g0276 a0001c0001t0003g0288 a0001c0001t0003g0305 a0001c0001t0003g0318 a0001c0001t0003g0322 a0001c0001t0005g0060 a0001c0007t0003g0135 a0001c0007t0003g0136 a0001c0007t0003g0137 a0001c0007t0003g0177 a0001c0007t0003g0189 a0001c0007t0003g0277 a0001c0007t0003g0278 a0001c0007t0003g0279 a0001c0007t0003g0280 a0001c0007t0003g0281 a0001c0008t0003g0292 a0001c0008t0003g0319 a0001c0008t0003g0320 a0001c0010t0003g0229 a0001c0010t0003g0230 a0001c0010t0003g0231 a0001c0010t0003g0232 a0001c0010t0003g0233 a0001c0010t0003g0285 a0001c0010t0003g0289 a0001c0010t0003g0297 a0001c0012t0004g0030 a0001c0012t0004g0053 a0001c0012t0004g0057 a0001c0012t0004g0211 a0001c0021t0004g0009 a0001c0030t0002g0007 a0002c0003t0002g0223 a0002c0005t0001g0002 a0002c0005t0001g0083 a0002c0005t0001g0084 a0002c0005t0001g0085 a0002c0005t0001g0194 a0002c0005t0001g0195 a0002c0005t0001g0197 a0002c0005t0001g0198 a0002c0005t0001g0199 a0002c0005t0001g0202 a0002c0005t0001g0203 a0002c0005t0001g0204 a0002c0005t0001g0309 a0002c0024t0001g0086 a0003c0014t0003g0043 a0003c0014t0003g0061 a0004c0015t0001g0193 a0004c0015t0001g0200 a0010c0032t0003g0284	114	328	0.3476	9	c.987 others(24): Show c.987+408_987+409insGAGCGTTCA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	10/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2_chr8_140652900_141006282	140927973	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp2 NA18747.hp1 others(1): Show HG00639.hp2 HG02109.hp2 NA18747.hp1 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0010 a0002c0002t0001 a0002c0002t0010	a0002c0002t0001g0147 a0002c0002t0001g0159 a0002c0002t0001g0166 others(1): Show a0002c0002t0001g0147 a0002c0002t0001g0159 a0002c0002t0001g0166 a0002c0002t0010g0002	4	290	0.0138	9	c.-12 others(28): Show c.-121-2225_-121-2224insATATATATA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140927975	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02451.hp2 NA18960.hp1 HG01433.hp2 HG02451.hp2 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0168 a0002c0002t0001g0280 a0002c0002t0002g0188 a0002c0002t0001g0168 a0002c0002t0001g0280 a0002c0002t0002g0188	3	290	0.0103	9	c.-12 others(28): Show c.-121-2227_-121-2226insATATATATA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140935702	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00639.hp2 others(122): Show HG00140.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18944.hp1 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18994.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0010 others(3): Show a0001c0001 a0001c0003 a0001c0010 a0002c0002 a0002c0004 a0006c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0003t0006 a0001c0010t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0010 a0002c0002t0015 a0002c0004t0001 a0006c0005t0001	a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0105 others(122): Show a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0204 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0004g0149 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0177 a0001c0001t0011g0007 a0001c0001t0012g0008 a0001c0001t0013g0009 a0001c0001t0017g0127 a0001c0001t0018g0133 a0001c0001t0020g0290 a0001c0003t0006g0148 a0001c0003t0006g0150 a0001c0010t0001g0218 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0147 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0217 a0002c0002t0001g0227 a0002c0002t0001g0231 a0002c0002t0001g0239 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0268 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0002g0154 a0002c0002t0002g0163 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0193 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0008g0006 a0002c0002t0010g0002 a0002c0002t0015g0203 a0002c0004t0001g0121 a0002c0004t0001g0153 a0006c0005t0001g0115	125	290	0.4310	9	c.-12 others(28): Show c.-121-9962_-121-9954dupAAAAAAAAA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	141000126	C C	CACACACA others(2): Show CACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp2 HG02897.hp2 others(4): Show HG02622.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03486.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0265 a0001c0003t0001g0266 a0001c0003t0003g0262 others(4): Show a0001c0001t0001g0265 a0001c0003t0001g0266 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0288 a0001c0003t0003g0289	7	290	0.0241	9	c.-12 others(26): Show c.-122+998_-122+999insTGTGTGTGT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK7_chr6_43071314_43166715	43150787	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02572.hp1 NA18944.hp2 others(3): Show HG00423.hp2 HG02572.hp1 NA18944.hp2 NA18963.hp2 NA18975.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0067 a0001c0001t0002g0255 others(3): Show a0001c0001t0002g0042 a0001c0001t0002g0067 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0271	6	272	0.0221	9	c.272 others(28): Show c.2721+4110_2721+4118dupTTTTTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTMA_chr2_231703525_231718551	231705109	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp2 others(10): Show HG00140.hp1 HG00323.hp1 HG00639.hp2 HG00733.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01981.hp1 HG02258.hp1 HG02622.hp1 HG02630.hp2 NA18982.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0002t0001g0020	13	392	0.0332	9	c.-35 others(20): Show c.-3598_-3597insAAAAAAAAA	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		3415		chr2	TogoVar
PTN_chr7_137222341_137348733	137269624	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02897.hp1 HG02970.hp1 others(4): Show HG02572.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03453.hp1 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0099 a0001c0001t0001g0132 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0099 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0206 a0001c0001t0002g0096 a0001c0001t0002g0097	7	296	0.0237	9	c.-1- others(26): Show c.-1-14659_-1-14651dupAAAAAAAAA	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137278945	C C	CAATAATA others(2): Show CAATAATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00642.hp1 others(27): Show HG00099.hp1 HG00438.hp2 HG00642.hp1 HG00738.hp2 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01361.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG02145.hp2 HG02451.hp1 HG02523.hp1 HG02622.hp1 HG03195.hp2 HG03540.hp2 HG04204.hp1 NA18951.hp2 NA18960.hp2 NA18967.hp2 NA18994.hp1 NA18994.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19060.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0018 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0091 a0001c0001t0001g0118 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0283 a0001c0001t0002g0138 a0001c0001t0002g0247	30	296	0.1014	9	c.-1- others(26): Show c.-1-23980_-1-23972dupATTATTATT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137278981	T T	TAATAATA others(2): Show TAATAATAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02257.hp2 others(16): Show HG01243.hp1 HG01891.hp2 HG02257.hp2 HG02258.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0099 others(16): Show a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0206 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0002g0097 a0001c0001t0002g0142 a0001c0001t0002g0176	19	296	0.0642	9	c.-1- others(26): Show c.-1-24008_-1-24007insTTTATTATT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137280691	T T	TAACAAAA others(2): Show TAACAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02896.hp2 HG02897.hp1 others(2): Show HG01243.hp2 HG02896.hp2 HG02897.hp1 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0139 a0001c0001t0001g0173 a0001c0001t0002g0095 others(2): Show a0001c0001t0001g0139 a0001c0001t0001g0173 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098	5	296	0.0169	9	c.-1- others(26): Show c.-1-25718_-1-25717insTTTTTTGTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137280699	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02040.hp1 HG02132.hp2 others(14): Show HG00597.hp2 HG02040.hp1 HG02132.hp2 HG02155.hp1 HG02976.hp2 NA18612.hp2 NA18945.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp2 NA19012.hp2 NA19056.hp2 NA19076.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 others(14): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0144 a0001c0001t0001g0193	17	296	0.0574	9	c.-1- others(26): Show c.-1-25734_-1-25726dupTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar

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